U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Search results

Items: 1 to 20 of 10376

1.

rs2498170 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    A>C,G [Show Flanks]
    Chromosome:
    X:47448825 (GRCh38)
    X:47308224 (GRCh37)
    Canonical SPDI:
    NC_000023.11:47448824:A:C,NC_000023.11:47448824:A:G
    Gene:
    ZNF41 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant,synonymous_variant
    Clinical significance:
    likely-benign,benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.013775/2433 (ALFA)
    C=0.004787/18 (1000Genomes)
    C=0.007491/4 (MGP)
    C=0.0089/94 (GoESP)
    C=0.009434/3 (HapMap)
    C=0.009545/992 (GnomAD)
    C=0.009692/1776 (GnomAD_exomes)
    C=0.009889/862 (ExAC)
    C=0.011597/43 (TWINSUK)
    C=0.012115/35 (ALSPAC)
    C=0.025/1 (GENOME_DK)
    A=0.166667/1 (SGDP_PRJ)
    HGVS:
    NC_000023.11:g.47448825A>C, NC_000023.11:g.47448825A>G, NC_000023.10:g.47308224A>C, NC_000023.10:g.47308224A>G, NG_008238.1:g.39122T>G, NG_008238.1:g.39122T>C, NM_007130.4:c.945T>G, NM_007130.4:c.945T>C, NM_007130.3:c.945T>G, NM_007130.3:c.945T>C, NM_007130.2:c.945T>G, NM_007130.2:c.945T>C, NM_153380.3:c.945T>G, NM_153380.3:c.945T>C, NM_153380.2:c.945T>G, NM_153380.2:c.945T>C, NM_001324150.2:c.945T>G, NM_001324150.2:c.945T>C, NM_001324150.1:c.945T>G, NM_001324150.1:c.945T>C, NM_001324152.2:c.687T>G, NM_001324152.2:c.687T>C, NM_001324152.1:c.687T>G, NM_001324152.1:c.687T>C, NM_001324151.2:c.975T>G, NM_001324151.2:c.975T>C, NM_001324151.1:c.975T>G, NM_001324151.1:c.975T>C, NM_001324148.2:c.951T>G, NM_001324148.2:c.951T>C, NM_001324148.1:c.951T>G, NM_001324148.1:c.951T>C, NM_001324144.2:c.945T>G, NM_001324144.2:c.945T>C, NM_001324144.1:c.945T>G, NM_001324144.1:c.945T>C, NM_001324147.2:c.945T>G, NM_001324147.2:c.945T>C, NM_001324147.1:c.945T>G, NM_001324147.1:c.945T>C, NM_001324153.2:c.975T>G, NM_001324153.2:c.975T>C, NM_001324153.1:c.975T>G, NM_001324153.1:c.975T>C, NM_001324142.2:c.951T>G, NM_001324142.2:c.951T>C, NM_001324142.1:c.951T>G, NM_001324142.1:c.951T>C, NM_001324140.2:c.945T>G, NM_001324140.2:c.945T>C, NM_001324140.1:c.945T>G, NM_001324140.1:c.945T>C, NM_001324149.2:c.687T>G, NM_001324149.2:c.687T>C, NM_001324149.1:c.687T>G, NM_001324149.1:c.687T>C, NM_001324143.2:c.687T>G, NM_001324143.2:c.687T>C, NM_001324143.1:c.687T>G, NM_001324143.1:c.687T>C, NM_001324145.2:c.687T>G, NM_001324145.2:c.687T>C, NM_001324145.1:c.687T>G, NM_001324145.1:c.687T>C, NM_001324141.2:c.687T>G, NM_001324141.2:c.687T>C, NM_001324141.1:c.687T>G, NM_001324141.1:c.687T>C, NM_001324139.2:c.687T>G, NM_001324139.2:c.687T>C, NM_001324139.1:c.687T>G, NM_001324139.1:c.687T>C, NM_001324155.1:c.1071T>G, NM_001324155.1:c.1071T>C, NM_001324154.1:c.1047T>G, NM_001324154.1:c.1047T>C, NM_001324156.1:c.843T>G, NM_001324156.1:c.843T>C, NM_001324157.1:c.837T>G, NM_001324157.1:c.837T>C, XM_006724550.4:c.1047T>G, XM_006724550.4:c.1047T>C, XM_006724550.3:c.1047T>G, XM_006724550.3:c.1047T>C, XM_006724550.2:c.1047T>G, XM_006724550.2:c.1047T>C, XM_006724550.1:c.1047T>G, XM_006724550.1:c.1047T>C, XM_006724555.4:c.975T>G, XM_006724555.4:c.975T>C, XM_006724555.3:c.975T>G, XM_006724555.3:c.975T>C, XM_006724555.2:c.975T>G, XM_006724555.2:c.975T>C, XM_006724555.1:c.975T>G, XM_006724555.1:c.975T>C, XM_017029811.3:c.1047T>G, XM_017029811.3:c.1047T>C, XM_017029811.2:c.1047T>G, XM_017029811.2:c.1047T>C, XM_017029811.1:c.1047T>G, XM_017029811.1:c.1047T>C, XM_017029810.3:c.1047T>G, XM_017029810.3:c.1047T>C, XM_017029810.2:c.1047T>G, XM_017029810.2:c.1047T>C, XM_017029810.1:c.1047T>G, XM_017029810.1:c.1047T>C, XM_017029814.3:c.1047T>G, XM_017029814.3:c.1047T>C, XM_017029814.2:c.1047T>G, XM_017029814.2:c.1047T>C, XM_017029814.1:c.1047T>G, XM_017029814.1:c.1047T>C, XM_017029812.2:c.1047T>G, XM_017029812.2:c.1047T>C, XM_017029812.1:c.1047T>G, XM_017029812.1:c.1047T>C, XM_017029813.2:c.1047T>G, XM_017029813.2:c.1047T>C, XM_017029813.1:c.1047T>G, XM_017029813.1:c.1047T>C, XM_017029815.2:c.1047T>G, XM_017029815.2:c.1047T>C, XM_017029815.1:c.1047T>G, XM_017029815.1:c.1047T>C, XM_017029816.2:c.975T>G, XM_017029816.2:c.975T>C, XM_017029816.1:c.975T>G, XM_017029816.1:c.975T>C, XM_017029817.2:c.945T>G, XM_017029817.2:c.945T>C, XM_017029817.1:c.945T>G, XM_017029817.1:c.945T>C, XM_047442475.1:c.951T>G, XM_047442475.1:c.951T>C, XM_047442472.1:c.975T>G, XM_047442472.1:c.975T>C, XM_047442474.1:c.975T>G, XM_047442474.1:c.975T>C, XM_047442476.1:c.951T>G, XM_047442476.1:c.951T>C, XM_047442479.1:c.951T>G, XM_047442479.1:c.951T>C, XM_047442471.1:c.1047T>G, XM_047442471.1:c.1047T>C, XM_047442473.1:c.975T>G, XM_047442473.1:c.975T>C, XM_047442477.1:c.951T>G, XM_047442477.1:c.951T>C, XM_047442481.1:c.945T>G, XM_047442481.1:c.945T>C, XM_047442478.1:c.951T>G, XM_047442478.1:c.951T>C, XM_047442480.1:c.951T>G, XM_047442480.1:c.951T>C, XM_047442482.1:c.945T>G, XM_047442482.1:c.945T>C, XM_047442483.1:c.687T>G, XM_047442483.1:c.687T>C, XM_047442484.1:c.687T>G, XM_047442484.1:c.687T>C, NP_009061.1:p.Asp315Glu, NP_700359.1:p.Asp315Glu, NP_001311079.1:p.Asp315Glu, NP_001311081.1:p.Asp229Glu, NP_001311080.1:p.Asp325Glu, NP_001311077.1:p.Asp317Glu, NP_001311073.1:p.Asp315Glu, NP_001311076.1:p.Asp315Glu, NP_001311082.1:p.Asp325Glu, NP_001311071.1:p.Asp317Glu, NP_001311069.1:p.Asp315Glu, NP_001311078.1:p.Asp229Glu, NP_001311072.1:p.Asp229Glu, NP_001311074.1:p.Asp229Glu, NP_001311070.1:p.Asp229Glu, NP_001311068.1:p.Asp229Glu, NP_001311084.1:p.Asp357Glu, NP_001311083.1:p.Asp349Glu, NP_001311085.1:p.Asp281Glu, NP_001311086.1:p.Asp279Glu, XP_006724613.1:p.Asp349Glu, XP_006724618.1:p.Asp325Glu, XP_016885300.1:p.Asp349Glu, XP_016885299.1:p.Asp349Glu, XP_016885303.1:p.Asp349Glu, XP_016885301.1:p.Asp349Glu, XP_016885302.1:p.Asp349Glu, XP_016885304.1:p.Asp349Glu, XP_016885305.1:p.Asp325Glu, XP_016885306.1:p.Asp315Glu, XP_047298431.1:p.Asp317Glu, XP_047298428.1:p.Asp325Glu, XP_047298430.1:p.Asp325Glu, XP_047298432.1:p.Asp317Glu, XP_047298435.1:p.Asp317Glu, XP_047298427.1:p.Asp349Glu, XP_047298429.1:p.Asp325Glu, XP_047298433.1:p.Asp317Glu, XP_047298437.1:p.Asp315Glu, XP_047298434.1:p.Asp317Glu, XP_047298436.1:p.Asp317Glu, XP_047298438.1:p.Asp315Glu, XP_047298439.1:p.Asp229Glu, XP_047298440.1:p.Asp229Glu

    2.

    rs2498490 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      C>T [Show Flanks]
      Chromosome:
      X:47448984 (GRCh38)
      X:47308383 (GRCh37)
      Canonical SPDI:
      NC_000023.11:47448983:C:T
      Gene:
      ZNF41 (Varview)
      Functional Consequence:
      coding_sequence_variant,synonymous_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      T=0.010584/411 (ALFA)
      T=0./0 (HapMap)
      T=0.003746/14 (1000Genomes)
      T=0.006438/68 (GoESP)
      T=0.006853/1814 (TOPMED)
      T=0.00693/1271 (GnomAD_exomes)
      T=0.00711/624 (ExAC)
      T=0.007491/4 (MGP)
      T=0.007548/782 (GnomAD)
      T=0.010248/38 (TWINSUK)
      T=0.011076/32 (ALSPAC)
      T=0.025/1 (GENOME_DK)
      C=0.5/1 (SGDP_PRJ)
      HGVS:
      NC_000023.11:g.47448984C>T, NC_000023.10:g.47308383C>T, NG_008238.1:g.38963G>A, NM_007130.4:c.786G>A, NM_007130.3:c.786G>A, NM_007130.2:c.786G>A, NM_153380.3:c.786G>A, NM_153380.2:c.786G>A, NM_001324150.2:c.786G>A, NM_001324150.1:c.786G>A, NM_001324152.2:c.528G>A, NM_001324152.1:c.528G>A, NM_001324151.2:c.816G>A, NM_001324151.1:c.816G>A, NM_001324148.2:c.792G>A, NM_001324148.1:c.792G>A, NM_001324144.2:c.786G>A, NM_001324144.1:c.786G>A, NM_001324147.2:c.786G>A, NM_001324147.1:c.786G>A, NM_001324153.2:c.816G>A, NM_001324153.1:c.816G>A, NM_001324142.2:c.792G>A, NM_001324142.1:c.792G>A, NM_001324140.2:c.786G>A, NM_001324140.1:c.786G>A, NM_001324149.2:c.528G>A, NM_001324149.1:c.528G>A, NM_001324143.2:c.528G>A, NM_001324143.1:c.528G>A, NM_001324145.2:c.528G>A, NM_001324145.1:c.528G>A, NM_001324141.2:c.528G>A, NM_001324141.1:c.528G>A, NM_001324139.2:c.528G>A, NM_001324139.1:c.528G>A, NM_001324155.1:c.912G>A, NM_001324154.1:c.888G>A, NM_001324156.1:c.684G>A, NM_001324157.1:c.678G>A, XM_006724550.4:c.888G>A, XM_006724550.3:c.888G>A, XM_006724550.2:c.888G>A, XM_006724550.1:c.888G>A, XM_006724555.4:c.816G>A, XM_006724555.3:c.816G>A, XM_006724555.2:c.816G>A, XM_006724555.1:c.816G>A, XM_017029811.3:c.888G>A, XM_017029811.2:c.888G>A, XM_017029811.1:c.888G>A, XM_017029810.3:c.888G>A, XM_017029810.2:c.888G>A, XM_017029810.1:c.888G>A, XM_017029814.3:c.888G>A, XM_017029814.2:c.888G>A, XM_017029814.1:c.888G>A, XM_017029812.2:c.888G>A, XM_017029812.1:c.888G>A, XM_017029813.2:c.888G>A, XM_017029813.1:c.888G>A, XM_017029815.2:c.888G>A, XM_017029815.1:c.888G>A, XM_017029816.2:c.816G>A, XM_017029816.1:c.816G>A, XM_017029817.2:c.786G>A, XM_017029817.1:c.786G>A, XM_047442475.1:c.792G>A, XM_047442472.1:c.816G>A, XM_047442474.1:c.816G>A, XM_047442476.1:c.792G>A, XM_047442479.1:c.792G>A, XM_047442471.1:c.888G>A, XM_047442473.1:c.816G>A, XM_047442477.1:c.792G>A, XM_047442481.1:c.786G>A, XM_047442478.1:c.792G>A, XM_047442480.1:c.792G>A, XM_047442482.1:c.786G>A, XM_047442483.1:c.528G>A, XM_047442484.1:c.528G>A

      3.

      rs17147624 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        A>C,G [Show Flanks]
        Chromosome:
        X:47449396 (GRCh38)
        X:47308795 (GRCh37)
        Canonical SPDI:
        NC_000023.11:47449395:A:C,NC_000023.11:47449395:A:G
        Gene:
        ZNF41 (Varview)
        Functional Consequence:
        missense_variant,intron_variant,coding_sequence_variant
        Clinical significance:
        benign,likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        C=0.029297/7300 (ALFA)
        A=0./0 (Siberian)
        C=0.003422/10 (KOREAN)
        C=0.017234/221 (TOMMO)
        C=0.02027/3 (Vietnamese)
        C=0.025/1 (GENOME_DK)
        C=0.029049/33 (Daghestan)
        C=0.031553/117 (TWINSUK)
        C=0.032258/122 (1000Genomes)
        C=0.034268/99 (ALSPAC)
        C=0.043643/461 (GoESP)
        C=0.044944/24 (MGP)
        C=0.053864/92 (HapMap)
        C=0.055556/6 (Qatari)
        A=0.0625/2 (SGDP_PRJ)
        HGVS:
        NC_000023.11:g.47449396A>C, NC_000023.11:g.47449396A>G, NC_000023.10:g.47308795A>C, NC_000023.10:g.47308795A>G, NG_008238.1:g.38551T>G, NG_008238.1:g.38551T>C, NM_007130.4:c.374T>G, NM_007130.4:c.374T>C, NM_007130.3:c.374T>G, NM_007130.3:c.374T>C, NM_007130.2:c.374T>G, NM_007130.2:c.374T>C, NM_153380.3:c.374T>G, NM_153380.3:c.374T>C, NM_153380.2:c.374T>G, NM_153380.2:c.374T>C, NM_001324150.2:c.374T>G, NM_001324150.2:c.374T>C, NM_001324150.1:c.374T>G, NM_001324150.1:c.374T>C, NM_001324152.2:c.116T>G, NM_001324152.2:c.116T>C, NM_001324152.1:c.116T>G, NM_001324152.1:c.116T>C, NM_001324151.2:c.404T>G, NM_001324151.2:c.404T>C, NM_001324151.1:c.404T>G, NM_001324151.1:c.404T>C, NM_001324148.2:c.380T>G, NM_001324148.2:c.380T>C, NM_001324148.1:c.380T>G, NM_001324148.1:c.380T>C, NM_001324144.2:c.374T>G, NM_001324144.2:c.374T>C, NM_001324144.1:c.374T>G, NM_001324144.1:c.374T>C, NM_001324147.2:c.374T>G, NM_001324147.2:c.374T>C, NM_001324147.1:c.374T>G, NM_001324147.1:c.374T>C, NM_001324153.2:c.404T>G, NM_001324153.2:c.404T>C, NM_001324153.1:c.404T>G, NM_001324153.1:c.404T>C, NM_001324142.2:c.380T>G, NM_001324142.2:c.380T>C, NM_001324142.1:c.380T>G, NM_001324142.1:c.380T>C, NM_001324140.2:c.374T>G, NM_001324140.2:c.374T>C, NM_001324140.1:c.374T>G, NM_001324140.1:c.374T>C, NM_001324149.2:c.116T>G, NM_001324149.2:c.116T>C, NM_001324149.1:c.116T>G, NM_001324149.1:c.116T>C, NM_001324143.2:c.116T>G, NM_001324143.2:c.116T>C, NM_001324143.1:c.116T>G, NM_001324143.1:c.116T>C, NM_001324145.2:c.116T>G, NM_001324145.2:c.116T>C, NM_001324145.1:c.116T>G, NM_001324145.1:c.116T>C, NM_001324141.2:c.116T>G, NM_001324141.2:c.116T>C, NM_001324141.1:c.116T>G, NM_001324141.1:c.116T>C, NM_001324139.2:c.116T>G, NM_001324139.2:c.116T>C, NM_001324139.1:c.116T>G, NM_001324139.1:c.116T>C, NM_001324155.1:c.500T>G, NM_001324155.1:c.500T>C, NM_001324154.1:c.476T>G, NM_001324154.1:c.476T>C, XM_006724550.4:c.476T>G, XM_006724550.4:c.476T>C, XM_006724550.3:c.476T>G, XM_006724550.3:c.476T>C, XM_006724550.2:c.476T>G, XM_006724550.2:c.476T>C, XM_006724550.1:c.476T>G, XM_006724550.1:c.476T>C, XM_006724555.4:c.404T>G, XM_006724555.4:c.404T>C, XM_006724555.3:c.404T>G, XM_006724555.3:c.404T>C, XM_006724555.2:c.404T>G, XM_006724555.2:c.404T>C, XM_006724555.1:c.404T>G, XM_006724555.1:c.404T>C, XM_017029811.3:c.476T>G, XM_017029811.3:c.476T>C, XM_017029811.2:c.476T>G, XM_017029811.2:c.476T>C, XM_017029811.1:c.476T>G, XM_017029811.1:c.476T>C, XM_017029810.3:c.476T>G, XM_017029810.3:c.476T>C, XM_017029810.2:c.476T>G, XM_017029810.2:c.476T>C, XM_017029810.1:c.476T>G, XM_017029810.1:c.476T>C, XM_017029814.3:c.476T>G, XM_017029814.3:c.476T>C, XM_017029814.2:c.476T>G, XM_017029814.2:c.476T>C, XM_017029814.1:c.476T>G, XM_017029814.1:c.476T>C, XM_017029812.2:c.476T>G, XM_017029812.2:c.476T>C, XM_017029812.1:c.476T>G, XM_017029812.1:c.476T>C, XM_017029813.2:c.476T>G, XM_017029813.2:c.476T>C, XM_017029813.1:c.476T>G, XM_017029813.1:c.476T>C, XM_017029815.2:c.476T>G, XM_017029815.2:c.476T>C, XM_017029815.1:c.476T>G, XM_017029815.1:c.476T>C, XM_017029816.2:c.404T>G, XM_017029816.2:c.404T>C, XM_017029816.1:c.404T>G, XM_017029816.1:c.404T>C, XM_017029817.2:c.374T>G, XM_017029817.2:c.374T>C, XM_017029817.1:c.374T>G, XM_017029817.1:c.374T>C, XM_047442475.1:c.380T>G, XM_047442475.1:c.380T>C, XM_047442472.1:c.404T>G, XM_047442472.1:c.404T>C, XM_047442474.1:c.404T>G, XM_047442474.1:c.404T>C, XM_047442476.1:c.380T>G, XM_047442476.1:c.380T>C, XM_047442479.1:c.380T>G, XM_047442479.1:c.380T>C, XM_047442471.1:c.476T>G, XM_047442471.1:c.476T>C, XM_047442473.1:c.404T>G, XM_047442473.1:c.404T>C, XM_047442477.1:c.380T>G, XM_047442477.1:c.380T>C, XM_047442481.1:c.374T>G, XM_047442481.1:c.374T>C, XM_047442478.1:c.380T>G, XM_047442478.1:c.380T>C, XM_047442480.1:c.380T>G, XM_047442480.1:c.380T>C, XM_047442482.1:c.374T>G, XM_047442482.1:c.374T>C, XM_047442483.1:c.116T>G, XM_047442483.1:c.116T>C, XM_047442484.1:c.116T>G, XM_047442484.1:c.116T>C, NP_009061.1:p.Ile125Arg, NP_009061.1:p.Ile125Thr, NP_700359.1:p.Ile125Arg, NP_700359.1:p.Ile125Thr, NP_001311079.1:p.Ile125Arg, NP_001311079.1:p.Ile125Thr, NP_001311081.1:p.Ile39Arg, NP_001311081.1:p.Ile39Thr, NP_001311080.1:p.Ile135Arg, NP_001311080.1:p.Ile135Thr, NP_001311077.1:p.Ile127Arg, NP_001311077.1:p.Ile127Thr, NP_001311073.1:p.Ile125Arg, NP_001311073.1:p.Ile125Thr, NP_001311076.1:p.Ile125Arg, NP_001311076.1:p.Ile125Thr, NP_001311082.1:p.Ile135Arg, NP_001311082.1:p.Ile135Thr, NP_001311071.1:p.Ile127Arg, NP_001311071.1:p.Ile127Thr, NP_001311069.1:p.Ile125Arg, NP_001311069.1:p.Ile125Thr, NP_001311078.1:p.Ile39Arg, NP_001311078.1:p.Ile39Thr, NP_001311072.1:p.Ile39Arg, NP_001311072.1:p.Ile39Thr, NP_001311074.1:p.Ile39Arg, NP_001311074.1:p.Ile39Thr, NP_001311070.1:p.Ile39Arg, NP_001311070.1:p.Ile39Thr, NP_001311068.1:p.Ile39Arg, NP_001311068.1:p.Ile39Thr, NP_001311084.1:p.Ile167Arg, NP_001311084.1:p.Ile167Thr, NP_001311083.1:p.Ile159Arg, NP_001311083.1:p.Ile159Thr, XP_006724613.1:p.Ile159Arg, XP_006724613.1:p.Ile159Thr, XP_006724618.1:p.Ile135Arg, XP_006724618.1:p.Ile135Thr, XP_016885300.1:p.Ile159Arg, XP_016885300.1:p.Ile159Thr, XP_016885299.1:p.Ile159Arg, XP_016885299.1:p.Ile159Thr, XP_016885303.1:p.Ile159Arg, XP_016885303.1:p.Ile159Thr, XP_016885301.1:p.Ile159Arg, XP_016885301.1:p.Ile159Thr, XP_016885302.1:p.Ile159Arg, XP_016885302.1:p.Ile159Thr, XP_016885304.1:p.Ile159Arg, XP_016885304.1:p.Ile159Thr, XP_016885305.1:p.Ile135Arg, XP_016885305.1:p.Ile135Thr, XP_016885306.1:p.Ile125Arg, XP_016885306.1:p.Ile125Thr, XP_047298431.1:p.Ile127Arg, XP_047298431.1:p.Ile127Thr, XP_047298428.1:p.Ile135Arg, XP_047298428.1:p.Ile135Thr, XP_047298430.1:p.Ile135Arg, XP_047298430.1:p.Ile135Thr, XP_047298432.1:p.Ile127Arg, XP_047298432.1:p.Ile127Thr, XP_047298435.1:p.Ile127Arg, XP_047298435.1:p.Ile127Thr, XP_047298427.1:p.Ile159Arg, XP_047298427.1:p.Ile159Thr, XP_047298429.1:p.Ile135Arg, XP_047298429.1:p.Ile135Thr, XP_047298433.1:p.Ile127Arg, XP_047298433.1:p.Ile127Thr, XP_047298437.1:p.Ile125Arg, XP_047298437.1:p.Ile125Thr, XP_047298434.1:p.Ile127Arg, XP_047298434.1:p.Ile127Thr, XP_047298436.1:p.Ile127Arg, XP_047298436.1:p.Ile127Thr, XP_047298438.1:p.Ile125Arg, XP_047298438.1:p.Ile125Thr, XP_047298439.1:p.Ile39Arg, XP_047298439.1:p.Ile39Thr, XP_047298440.1:p.Ile39Arg, XP_047298440.1:p.Ile39Thr

        4.

        rs34301930 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          A>C [Show Flanks]
          Chromosome:
          X:47449110 (GRCh38)
          X:47308509 (GRCh37)
          Canonical SPDI:
          NC_000023.11:47449109:A:C
          Gene:
          ZNF41 (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Clinical significance:
          benign,likely-benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          C=0.003462/619 (ALFA)
          C=0.003745/2 (MGP)
          C=0.007865/1442 (GnomAD_exomes)
          C=0.009914/870 (ExAC)
          C=0.030284/3134 (GnomAD)
          C=0.032258/122 (1000Genomes)
          C=0.032756/346 (GoESP)
          C=0.03302/8740 (TOPMED)
          C=0.046296/5 (Qatari)
          A=0.0625/1 (SGDP_PRJ)
          HGVS:
          NC_000023.11:g.47449110A>C, NC_000023.10:g.47308509A>C, NG_008238.1:g.38837T>G, NM_007130.4:c.660T>G, NM_007130.3:c.660T>G, NM_007130.2:c.660T>G, NM_153380.3:c.660T>G, NM_153380.2:c.660T>G, NM_001324150.2:c.660T>G, NM_001324150.1:c.660T>G, NM_001324152.2:c.402T>G, NM_001324152.1:c.402T>G, NM_001324151.2:c.690T>G, NM_001324151.1:c.690T>G, NM_001324148.2:c.666T>G, NM_001324148.1:c.666T>G, NM_001324144.2:c.660T>G, NM_001324144.1:c.660T>G, NM_001324147.2:c.660T>G, NM_001324147.1:c.660T>G, NM_001324153.2:c.690T>G, NM_001324153.1:c.690T>G, NM_001324142.2:c.666T>G, NM_001324142.1:c.666T>G, NM_001324140.2:c.660T>G, NM_001324140.1:c.660T>G, NM_001324149.2:c.402T>G, NM_001324149.1:c.402T>G, NM_001324143.2:c.402T>G, NM_001324143.1:c.402T>G, NM_001324145.2:c.402T>G, NM_001324145.1:c.402T>G, NM_001324141.2:c.402T>G, NM_001324141.1:c.402T>G, NM_001324139.2:c.402T>G, NM_001324139.1:c.402T>G, NM_001324155.1:c.786T>G, NM_001324154.1:c.762T>G, NM_001324156.1:c.558T>G, NM_001324157.1:c.552T>G, XM_006724550.4:c.762T>G, XM_006724550.3:c.762T>G, XM_006724550.2:c.762T>G, XM_006724550.1:c.762T>G, XM_006724555.4:c.690T>G, XM_006724555.3:c.690T>G, XM_006724555.2:c.690T>G, XM_006724555.1:c.690T>G, XM_017029811.3:c.762T>G, XM_017029811.2:c.762T>G, XM_017029811.1:c.762T>G, XM_017029810.3:c.762T>G, XM_017029810.2:c.762T>G, XM_017029810.1:c.762T>G, XM_017029814.3:c.762T>G, XM_017029814.2:c.762T>G, XM_017029814.1:c.762T>G, XM_017029812.2:c.762T>G, XM_017029812.1:c.762T>G, XM_017029813.2:c.762T>G, XM_017029813.1:c.762T>G, XM_017029815.2:c.762T>G, XM_017029815.1:c.762T>G, XM_017029816.2:c.690T>G, XM_017029816.1:c.690T>G, XM_017029817.2:c.660T>G, XM_017029817.1:c.660T>G, XM_047442475.1:c.666T>G, XM_047442472.1:c.690T>G, XM_047442474.1:c.690T>G, XM_047442476.1:c.666T>G, XM_047442479.1:c.666T>G, XM_047442471.1:c.762T>G, XM_047442473.1:c.690T>G, XM_047442477.1:c.666T>G, XM_047442481.1:c.660T>G, XM_047442478.1:c.666T>G, XM_047442480.1:c.666T>G, XM_047442482.1:c.660T>G, XM_047442483.1:c.402T>G, XM_047442484.1:c.402T>G, NP_009061.1:p.Asn220Lys, NP_700359.1:p.Asn220Lys, NP_001311079.1:p.Asn220Lys, NP_001311081.1:p.Asn134Lys, NP_001311080.1:p.Asn230Lys, NP_001311077.1:p.Asn222Lys, NP_001311073.1:p.Asn220Lys, NP_001311076.1:p.Asn220Lys, NP_001311082.1:p.Asn230Lys, NP_001311071.1:p.Asn222Lys, NP_001311069.1:p.Asn220Lys, NP_001311078.1:p.Asn134Lys, NP_001311072.1:p.Asn134Lys, NP_001311074.1:p.Asn134Lys, NP_001311070.1:p.Asn134Lys, NP_001311068.1:p.Asn134Lys, NP_001311084.1:p.Asn262Lys, NP_001311083.1:p.Asn254Lys, NP_001311085.1:p.Asn186Lys, NP_001311086.1:p.Asn184Lys, XP_006724613.1:p.Asn254Lys, XP_006724618.1:p.Asn230Lys, XP_016885300.1:p.Asn254Lys, XP_016885299.1:p.Asn254Lys, XP_016885303.1:p.Asn254Lys, XP_016885301.1:p.Asn254Lys, XP_016885302.1:p.Asn254Lys, XP_016885304.1:p.Asn254Lys, XP_016885305.1:p.Asn230Lys, XP_016885306.1:p.Asn220Lys, XP_047298431.1:p.Asn222Lys, XP_047298428.1:p.Asn230Lys, XP_047298430.1:p.Asn230Lys, XP_047298432.1:p.Asn222Lys, XP_047298435.1:p.Asn222Lys, XP_047298427.1:p.Asn254Lys, XP_047298429.1:p.Asn230Lys, XP_047298433.1:p.Asn222Lys, XP_047298437.1:p.Asn220Lys, XP_047298434.1:p.Asn222Lys, XP_047298436.1:p.Asn222Lys, XP_047298438.1:p.Asn220Lys, XP_047298439.1:p.Asn134Lys, XP_047298440.1:p.Asn134Lys

          5.

          rs34391244 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:47448869 (GRCh38)
            X:47308268 (GRCh37)
            Canonical SPDI:
            NC_000023.11:47448868:A:G
            Gene:
            ZNF41 (Varview)
            Functional Consequence:
            missense_variant,coding_sequence_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.003605/436 (ALFA)
            G=0./0 (Daghestan)
            G=0.00027/1 (TWINSUK)
            G=0.000692/2 (ALSPAC)
            G=0.004888/896 (GnomAD_exomes)
            G=0.006215/545 (ExAC)
            G=0.017452/1808 (GnomAD)
            G=0.018106/68 (1000Genomes)
            G=0.019404/5136 (TOPMED)
            G=0.020543/217 (GoESP)
            G=0.027778/3 (Qatari)
            A=0.25/2 (SGDP_PRJ)
            HGVS:
            NC_000023.11:g.47448869A>G, NC_000023.10:g.47308268A>G, NG_008238.1:g.39078T>C, NM_007130.4:c.901T>C, NM_007130.3:c.901T>C, NM_007130.2:c.901T>C, NM_153380.3:c.901T>C, NM_153380.2:c.901T>C, NM_001324150.2:c.901T>C, NM_001324150.1:c.901T>C, NM_001324152.2:c.643T>C, NM_001324152.1:c.643T>C, NM_001324151.2:c.931T>C, NM_001324151.1:c.931T>C, NM_001324148.2:c.907T>C, NM_001324148.1:c.907T>C, NM_001324144.2:c.901T>C, NM_001324144.1:c.901T>C, NM_001324147.2:c.901T>C, NM_001324147.1:c.901T>C, NM_001324153.2:c.931T>C, NM_001324153.1:c.931T>C, NM_001324142.2:c.907T>C, NM_001324142.1:c.907T>C, NM_001324140.2:c.901T>C, NM_001324140.1:c.901T>C, NM_001324149.2:c.643T>C, NM_001324149.1:c.643T>C, NM_001324143.2:c.643T>C, NM_001324143.1:c.643T>C, NM_001324145.2:c.643T>C, NM_001324145.1:c.643T>C, NM_001324141.2:c.643T>C, NM_001324141.1:c.643T>C, NM_001324139.2:c.643T>C, NM_001324139.1:c.643T>C, NM_001324155.1:c.1027T>C, NM_001324154.1:c.1003T>C, NM_001324156.1:c.799T>C, NM_001324157.1:c.793T>C, XM_006724550.4:c.1003T>C, XM_006724550.3:c.1003T>C, XM_006724550.2:c.1003T>C, XM_006724550.1:c.1003T>C, XM_006724555.4:c.931T>C, XM_006724555.3:c.931T>C, XM_006724555.2:c.931T>C, XM_006724555.1:c.931T>C, XM_017029811.3:c.1003T>C, XM_017029811.2:c.1003T>C, XM_017029811.1:c.1003T>C, XM_017029810.3:c.1003T>C, XM_017029810.2:c.1003T>C, XM_017029810.1:c.1003T>C, XM_017029814.3:c.1003T>C, XM_017029814.2:c.1003T>C, XM_017029814.1:c.1003T>C, XM_017029812.2:c.1003T>C, XM_017029812.1:c.1003T>C, XM_017029813.2:c.1003T>C, XM_017029813.1:c.1003T>C, XM_017029815.2:c.1003T>C, XM_017029815.1:c.1003T>C, XM_017029816.2:c.931T>C, XM_017029816.1:c.931T>C, XM_017029817.2:c.901T>C, XM_017029817.1:c.901T>C, XM_047442475.1:c.907T>C, XM_047442472.1:c.931T>C, XM_047442474.1:c.931T>C, XM_047442476.1:c.907T>C, XM_047442479.1:c.907T>C, XM_047442471.1:c.1003T>C, XM_047442473.1:c.931T>C, XM_047442477.1:c.907T>C, XM_047442481.1:c.901T>C, XM_047442478.1:c.907T>C, XM_047442480.1:c.907T>C, XM_047442482.1:c.901T>C, XM_047442483.1:c.643T>C, XM_047442484.1:c.643T>C, NP_009061.1:p.Cys301Arg, NP_700359.1:p.Cys301Arg, NP_001311079.1:p.Cys301Arg, NP_001311081.1:p.Cys215Arg, NP_001311080.1:p.Cys311Arg, NP_001311077.1:p.Cys303Arg, NP_001311073.1:p.Cys301Arg, NP_001311076.1:p.Cys301Arg, NP_001311082.1:p.Cys311Arg, NP_001311071.1:p.Cys303Arg, NP_001311069.1:p.Cys301Arg, NP_001311078.1:p.Cys215Arg, NP_001311072.1:p.Cys215Arg, NP_001311074.1:p.Cys215Arg, NP_001311070.1:p.Cys215Arg, NP_001311068.1:p.Cys215Arg, NP_001311084.1:p.Cys343Arg, NP_001311083.1:p.Cys335Arg, NP_001311085.1:p.Cys267Arg, NP_001311086.1:p.Cys265Arg, XP_006724613.1:p.Cys335Arg, XP_006724618.1:p.Cys311Arg, XP_016885300.1:p.Cys335Arg, XP_016885299.1:p.Cys335Arg, XP_016885303.1:p.Cys335Arg, XP_016885301.1:p.Cys335Arg, XP_016885302.1:p.Cys335Arg, XP_016885304.1:p.Cys335Arg, XP_016885305.1:p.Cys311Arg, XP_016885306.1:p.Cys301Arg, XP_047298431.1:p.Cys303Arg, XP_047298428.1:p.Cys311Arg, XP_047298430.1:p.Cys311Arg, XP_047298432.1:p.Cys303Arg, XP_047298435.1:p.Cys303Arg, XP_047298427.1:p.Cys335Arg, XP_047298429.1:p.Cys311Arg, XP_047298433.1:p.Cys303Arg, XP_047298437.1:p.Cys301Arg, XP_047298434.1:p.Cys303Arg, XP_047298436.1:p.Cys303Arg, XP_047298438.1:p.Cys301Arg, XP_047298439.1:p.Cys215Arg, XP_047298440.1:p.Cys215Arg

            6.

            rs60022654 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              T>C [Show Flanks]
              Chromosome:
              X:47449383 (GRCh38)
              X:47308782 (GRCh37)
              Canonical SPDI:
              NC_000023.11:47449382:T:C
              Gene:
              ZNF41 (Varview)
              Functional Consequence:
              intron_variant,coding_sequence_variant,synonymous_variant
              Clinical significance:
              benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              C=0.007156/167 (ALFA)
              C=0.001873/1 (MGP)
              C=0.0044/805 (GnomAD_exomes)
              C=0.005444/459 (ExAC)
              C=0.016042/1666 (GnomAD)
              C=0.01723/182 (GoESP)
              C=0.017292/4577 (TOPMED)
              C=0.017898/68 (1000Genomes)
              T=0.166667/1 (SGDP_PRJ)
              HGVS:
              NC_000023.11:g.47449383T>C, NC_000023.10:g.47308782T>C, NG_008238.1:g.38564A>G, NM_007130.4:c.387A>G, NM_007130.3:c.387A>G, NM_007130.2:c.387A>G, NM_153380.3:c.387A>G, NM_153380.2:c.387A>G, NM_001324150.2:c.387A>G, NM_001324150.1:c.387A>G, NM_001324152.2:c.129A>G, NM_001324152.1:c.129A>G, NM_001324151.2:c.417A>G, NM_001324151.1:c.417A>G, NM_001324148.2:c.393A>G, NM_001324148.1:c.393A>G, NM_001324144.2:c.387A>G, NM_001324144.1:c.387A>G, NM_001324147.2:c.387A>G, NM_001324147.1:c.387A>G, NM_001324153.2:c.417A>G, NM_001324153.1:c.417A>G, NM_001324142.2:c.393A>G, NM_001324142.1:c.393A>G, NM_001324140.2:c.387A>G, NM_001324140.1:c.387A>G, NM_001324149.2:c.129A>G, NM_001324149.1:c.129A>G, NM_001324143.2:c.129A>G, NM_001324143.1:c.129A>G, NM_001324145.2:c.129A>G, NM_001324145.1:c.129A>G, NM_001324141.2:c.129A>G, NM_001324141.1:c.129A>G, NM_001324139.2:c.129A>G, NM_001324139.1:c.129A>G, NM_001324155.1:c.513A>G, NM_001324154.1:c.489A>G, XM_006724550.4:c.489A>G, XM_006724550.3:c.489A>G, XM_006724550.2:c.489A>G, XM_006724550.1:c.489A>G, XM_006724555.4:c.417A>G, XM_006724555.3:c.417A>G, XM_006724555.2:c.417A>G, XM_006724555.1:c.417A>G, XM_017029811.3:c.489A>G, XM_017029811.2:c.489A>G, XM_017029811.1:c.489A>G, XM_017029810.3:c.489A>G, XM_017029810.2:c.489A>G, XM_017029810.1:c.489A>G, XM_017029814.3:c.489A>G, XM_017029814.2:c.489A>G, XM_017029814.1:c.489A>G, XM_017029812.2:c.489A>G, XM_017029812.1:c.489A>G, XM_017029813.2:c.489A>G, XM_017029813.1:c.489A>G, XM_017029815.2:c.489A>G, XM_017029815.1:c.489A>G, XM_017029816.2:c.417A>G, XM_017029816.1:c.417A>G, XM_017029817.2:c.387A>G, XM_017029817.1:c.387A>G, XM_047442475.1:c.393A>G, XM_047442472.1:c.417A>G, XM_047442474.1:c.417A>G, XM_047442476.1:c.393A>G, XM_047442479.1:c.393A>G, XM_047442471.1:c.489A>G, XM_047442473.1:c.417A>G, XM_047442477.1:c.393A>G, XM_047442481.1:c.387A>G, XM_047442478.1:c.393A>G, XM_047442480.1:c.393A>G, XM_047442482.1:c.387A>G, XM_047442483.1:c.129A>G, XM_047442484.1:c.129A>G

              7.

              rs104894955 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                G>A [Show Flanks]
                Chromosome:
                X:47449438 (GRCh38)
                X:47308837 (GRCh37)
                Canonical SPDI:
                NC_000023.11:47449437:G:A
                Gene:
                ZNF41 (Varview)
                Functional Consequence:
                missense_variant,intron_variant,coding_sequence_variant
                Clinical significance:
                likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                A=0.001447/225 (ALFA)
                A=0.000484/35 (ExAC)
                A=0.000519/93 (GnomAD_exomes)
                A=0.000649/67 (GnomAD)
                A=0.000714/189 (TOPMED)
                A=0.001348/5 (TWINSUK)
                A=0.003808/11 (ALSPAC)
                HGVS:
                NC_000023.11:g.47449438G>A, NC_000023.10:g.47308837G>A, NG_008238.1:g.38509C>T, NM_007130.4:c.332C>T, NM_007130.3:c.332C>T, NM_007130.2:c.332C>T, NM_153380.3:c.332C>T, NM_153380.2:c.332C>T, NM_001324150.2:c.332C>T, NM_001324150.1:c.332C>T, NM_001324152.2:c.74C>T, NM_001324152.1:c.74C>T, NM_001324151.2:c.362C>T, NM_001324151.1:c.362C>T, NM_001324148.2:c.338C>T, NM_001324148.1:c.338C>T, NM_001324144.2:c.332C>T, NM_001324144.1:c.332C>T, NM_001324147.2:c.332C>T, NM_001324147.1:c.332C>T, NM_001324153.2:c.362C>T, NM_001324153.1:c.362C>T, NM_001324142.2:c.338C>T, NM_001324142.1:c.338C>T, NM_001324140.2:c.332C>T, NM_001324140.1:c.332C>T, NM_001324149.2:c.74C>T, NM_001324149.1:c.74C>T, NM_001324143.2:c.74C>T, NM_001324143.1:c.74C>T, NM_001324145.2:c.74C>T, NM_001324145.1:c.74C>T, NM_001324141.2:c.74C>T, NM_001324141.1:c.74C>T, NM_001324139.2:c.74C>T, NM_001324139.1:c.74C>T, NM_001324155.1:c.458C>T, NM_001324154.1:c.434C>T, XM_006724550.4:c.434C>T, XM_006724550.3:c.434C>T, XM_006724550.2:c.434C>T, XM_006724550.1:c.434C>T, XM_006724555.4:c.362C>T, XM_006724555.3:c.362C>T, XM_006724555.2:c.362C>T, XM_006724555.1:c.362C>T, XM_017029811.3:c.434C>T, XM_017029811.2:c.434C>T, XM_017029811.1:c.434C>T, XM_017029810.3:c.434C>T, XM_017029810.2:c.434C>T, XM_017029810.1:c.434C>T, XM_017029814.3:c.434C>T, XM_017029814.2:c.434C>T, XM_017029814.1:c.434C>T, XM_017029812.2:c.434C>T, XM_017029812.1:c.434C>T, XM_017029813.2:c.434C>T, XM_017029813.1:c.434C>T, XM_017029815.2:c.434C>T, XM_017029815.1:c.434C>T, XM_017029816.2:c.362C>T, XM_017029816.1:c.362C>T, XM_017029817.2:c.332C>T, XM_017029817.1:c.332C>T, XM_047442475.1:c.338C>T, XM_047442472.1:c.362C>T, XM_047442474.1:c.362C>T, XM_047442476.1:c.338C>T, XM_047442479.1:c.338C>T, XM_047442471.1:c.434C>T, XM_047442473.1:c.362C>T, XM_047442477.1:c.338C>T, XM_047442481.1:c.332C>T, XM_047442478.1:c.338C>T, XM_047442480.1:c.338C>T, XM_047442482.1:c.332C>T, XM_047442483.1:c.74C>T, XM_047442484.1:c.74C>T, NP_009061.1:p.Pro111Leu, NP_700359.1:p.Pro111Leu, NP_001311079.1:p.Pro111Leu, NP_001311081.1:p.Pro25Leu, NP_001311080.1:p.Pro121Leu, NP_001311077.1:p.Pro113Leu, NP_001311073.1:p.Pro111Leu, NP_001311076.1:p.Pro111Leu, NP_001311082.1:p.Pro121Leu, NP_001311071.1:p.Pro113Leu, NP_001311069.1:p.Pro111Leu, NP_001311078.1:p.Pro25Leu, NP_001311072.1:p.Pro25Leu, NP_001311074.1:p.Pro25Leu, NP_001311070.1:p.Pro25Leu, NP_001311068.1:p.Pro25Leu, NP_001311084.1:p.Pro153Leu, NP_001311083.1:p.Pro145Leu, XP_006724613.1:p.Pro145Leu, XP_006724618.1:p.Pro121Leu, XP_016885300.1:p.Pro145Leu, XP_016885299.1:p.Pro145Leu, XP_016885303.1:p.Pro145Leu, XP_016885301.1:p.Pro145Leu, XP_016885302.1:p.Pro145Leu, XP_016885304.1:p.Pro145Leu, XP_016885305.1:p.Pro121Leu, XP_016885306.1:p.Pro111Leu, XP_047298431.1:p.Pro113Leu, XP_047298428.1:p.Pro121Leu, XP_047298430.1:p.Pro121Leu, XP_047298432.1:p.Pro113Leu, XP_047298435.1:p.Pro113Leu, XP_047298427.1:p.Pro145Leu, XP_047298429.1:p.Pro121Leu, XP_047298433.1:p.Pro113Leu, XP_047298437.1:p.Pro111Leu, XP_047298434.1:p.Pro113Leu, XP_047298436.1:p.Pro113Leu, XP_047298438.1:p.Pro111Leu, XP_047298439.1:p.Pro25Leu, XP_047298440.1:p.Pro25Leu

                8.

                rs144904486 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>A,T [Show Flanks]
                  Chromosome:
                  X:47447656 (GRCh38)
                  X:47307055 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:47447655:C:A,NC_000023.11:47447655:C:T
                  Gene:
                  ZNF41 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,missense_variant
                  Clinical significance:
                  likely-benign,uncertain-significance
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000852/62 (ALFA)
                  T=0./0 (ALSPAC)
                  T=0.000045/1 (TOMMO)
                  T=0.00041/36 (ExAC)
                  T=0.000457/121 (TOPMED)
                  T=0.000501/52 (GnomAD)
                  T=0.000663/7 (GoESP)
                  T=0.000809/3 (TWINSUK)
                  HGVS:
                  NC_000023.11:g.47447656C>A, NC_000023.11:g.47447656C>T, NC_000023.10:g.47307055C>A, NC_000023.10:g.47307055C>T, NG_008238.1:g.40291G>T, NG_008238.1:g.40291G>A, NM_007130.4:c.2114G>T, NM_007130.4:c.2114G>A, NM_007130.3:c.2114G>T, NM_007130.3:c.2114G>A, NM_007130.2:c.2114G>T, NM_007130.2:c.2114G>A, NM_153380.3:c.2114G>T, NM_153380.3:c.2114G>A, NM_153380.2:c.2114G>T, NM_153380.2:c.2114G>A, NM_001324150.2:c.2114G>T, NM_001324150.2:c.2114G>A, NM_001324150.1:c.2114G>T, NM_001324150.1:c.2114G>A, NM_001324152.2:c.1856G>T, NM_001324152.2:c.1856G>A, NM_001324152.1:c.1856G>T, NM_001324152.1:c.1856G>A, NM_001324151.2:c.2144G>T, NM_001324151.2:c.2144G>A, NM_001324151.1:c.2144G>T, NM_001324151.1:c.2144G>A, NM_001324148.2:c.2120G>T, NM_001324148.2:c.2120G>A, NM_001324148.1:c.2120G>T, NM_001324148.1:c.2120G>A, NM_001324144.2:c.2114G>T, NM_001324144.2:c.2114G>A, NM_001324144.1:c.2114G>T, NM_001324144.1:c.2114G>A, NM_001324147.2:c.2114G>T, NM_001324147.2:c.2114G>A, NM_001324147.1:c.2114G>T, NM_001324147.1:c.2114G>A, NM_001324153.2:c.2144G>T, NM_001324153.2:c.2144G>A, NM_001324153.1:c.2144G>T, NM_001324153.1:c.2144G>A, NM_001324142.2:c.2120G>T, NM_001324142.2:c.2120G>A, NM_001324142.1:c.2120G>T, NM_001324142.1:c.2120G>A, NM_001324140.2:c.2114G>T, NM_001324140.2:c.2114G>A, NM_001324140.1:c.2114G>T, NM_001324140.1:c.2114G>A, NM_001324149.2:c.1856G>T, NM_001324149.2:c.1856G>A, NM_001324149.1:c.1856G>T, NM_001324149.1:c.1856G>A, NM_001324143.2:c.1856G>T, NM_001324143.2:c.1856G>A, NM_001324143.1:c.1856G>T, NM_001324143.1:c.1856G>A, NM_001324145.2:c.1856G>T, NM_001324145.2:c.1856G>A, NM_001324145.1:c.1856G>T, NM_001324145.1:c.1856G>A, NM_001324141.2:c.1856G>T, NM_001324141.2:c.1856G>A, NM_001324141.1:c.1856G>T, NM_001324141.1:c.1856G>A, NM_001324139.2:c.1856G>T, NM_001324139.2:c.1856G>A, NM_001324139.1:c.1856G>T, NM_001324139.1:c.1856G>A, NM_001324155.1:c.2240G>T, NM_001324155.1:c.2240G>A, NM_001324154.1:c.2216G>T, NM_001324154.1:c.2216G>A, NM_001324156.1:c.2012G>T, NM_001324156.1:c.2012G>A, NM_001324157.1:c.2006G>T, NM_001324157.1:c.2006G>A, XM_006724550.4:c.2216G>T, XM_006724550.4:c.2216G>A, XM_006724550.3:c.2216G>T, XM_006724550.3:c.2216G>A, XM_006724550.2:c.2216G>T, XM_006724550.2:c.2216G>A, XM_006724550.1:c.2216G>T, XM_006724550.1:c.2216G>A, XM_006724555.4:c.2144G>T, XM_006724555.4:c.2144G>A, XM_006724555.3:c.2144G>T, XM_006724555.3:c.2144G>A, XM_006724555.2:c.2144G>T, XM_006724555.2:c.2144G>A, XM_006724555.1:c.2144G>T, XM_006724555.1:c.2144G>A, XM_017029811.3:c.2216G>T, XM_017029811.3:c.2216G>A, XM_017029811.2:c.2216G>T, XM_017029811.2:c.2216G>A, XM_017029811.1:c.2216G>T, XM_017029811.1:c.2216G>A, XM_017029810.3:c.2216G>T, XM_017029810.3:c.2216G>A, XM_017029810.2:c.2216G>T, XM_017029810.2:c.2216G>A, XM_017029810.1:c.2216G>T, XM_017029810.1:c.2216G>A, XM_017029814.3:c.2216G>T, XM_017029814.3:c.2216G>A, XM_017029814.2:c.2216G>T, XM_017029814.2:c.2216G>A, XM_017029814.1:c.2216G>T, XM_017029814.1:c.2216G>A, XM_017029812.2:c.2216G>T, XM_017029812.2:c.2216G>A, XM_017029812.1:c.2216G>T, XM_017029812.1:c.2216G>A, XM_017029813.2:c.2216G>T, XM_017029813.2:c.2216G>A, XM_017029813.1:c.2216G>T, XM_017029813.1:c.2216G>A, XM_017029815.2:c.2216G>T, XM_017029815.2:c.2216G>A, XM_017029815.1:c.2216G>T, XM_017029815.1:c.2216G>A, XM_017029816.2:c.2144G>T, XM_017029816.2:c.2144G>A, XM_017029816.1:c.2144G>T, XM_017029816.1:c.2144G>A, XM_017029817.2:c.2114G>T, XM_017029817.2:c.2114G>A, XM_017029817.1:c.2114G>T, XM_017029817.1:c.2114G>A, XM_047442475.1:c.2120G>T, XM_047442475.1:c.2120G>A, XM_047442472.1:c.2144G>T, XM_047442472.1:c.2144G>A, XM_047442474.1:c.2144G>T, XM_047442474.1:c.2144G>A, XM_047442476.1:c.2120G>T, XM_047442476.1:c.2120G>A, XM_047442479.1:c.2120G>T, XM_047442479.1:c.2120G>A, XM_047442471.1:c.2216G>T, XM_047442471.1:c.2216G>A, XM_047442473.1:c.2144G>T, XM_047442473.1:c.2144G>A, XM_047442477.1:c.2120G>T, XM_047442477.1:c.2120G>A, XM_047442481.1:c.2114G>T, XM_047442481.1:c.2114G>A, XM_047442478.1:c.2120G>T, XM_047442478.1:c.2120G>A, XM_047442480.1:c.2120G>T, XM_047442480.1:c.2120G>A, XM_047442482.1:c.2114G>T, XM_047442482.1:c.2114G>A, XM_047442483.1:c.1856G>T, XM_047442483.1:c.1856G>A, XM_047442484.1:c.1856G>T, XM_047442484.1:c.1856G>A, NP_009061.1:p.Arg705Leu, NP_009061.1:p.Arg705His, NP_700359.1:p.Arg705Leu, NP_700359.1:p.Arg705His, NP_001311079.1:p.Arg705Leu, NP_001311079.1:p.Arg705His, NP_001311081.1:p.Arg619Leu, NP_001311081.1:p.Arg619His, NP_001311080.1:p.Arg715Leu, NP_001311080.1:p.Arg715His, NP_001311077.1:p.Arg707Leu, NP_001311077.1:p.Arg707His, NP_001311073.1:p.Arg705Leu, NP_001311073.1:p.Arg705His, NP_001311076.1:p.Arg705Leu, NP_001311076.1:p.Arg705His, NP_001311082.1:p.Arg715Leu, NP_001311082.1:p.Arg715His, NP_001311071.1:p.Arg707Leu, NP_001311071.1:p.Arg707His, NP_001311069.1:p.Arg705Leu, NP_001311069.1:p.Arg705His, NP_001311078.1:p.Arg619Leu, NP_001311078.1:p.Arg619His, NP_001311072.1:p.Arg619Leu, NP_001311072.1:p.Arg619His, NP_001311074.1:p.Arg619Leu, NP_001311074.1:p.Arg619His, NP_001311070.1:p.Arg619Leu, NP_001311070.1:p.Arg619His, NP_001311068.1:p.Arg619Leu, NP_001311068.1:p.Arg619His, NP_001311084.1:p.Arg747Leu, NP_001311084.1:p.Arg747His, NP_001311083.1:p.Arg739Leu, NP_001311083.1:p.Arg739His, NP_001311085.1:p.Arg671Leu, NP_001311085.1:p.Arg671His, NP_001311086.1:p.Arg669Leu, NP_001311086.1:p.Arg669His, XP_006724613.1:p.Arg739Leu, XP_006724613.1:p.Arg739His, XP_006724618.1:p.Arg715Leu, XP_006724618.1:p.Arg715His, XP_016885300.1:p.Arg739Leu, XP_016885300.1:p.Arg739His, XP_016885299.1:p.Arg739Leu, XP_016885299.1:p.Arg739His, XP_016885303.1:p.Arg739Leu, XP_016885303.1:p.Arg739His, XP_016885301.1:p.Arg739Leu, XP_016885301.1:p.Arg739His, XP_016885302.1:p.Arg739Leu, XP_016885302.1:p.Arg739His, XP_016885304.1:p.Arg739Leu, XP_016885304.1:p.Arg739His, XP_016885305.1:p.Arg715Leu, XP_016885305.1:p.Arg715His, XP_016885306.1:p.Arg705Leu, XP_016885306.1:p.Arg705His, XP_047298431.1:p.Arg707Leu, XP_047298431.1:p.Arg707His, XP_047298428.1:p.Arg715Leu, XP_047298428.1:p.Arg715His, XP_047298430.1:p.Arg715Leu, XP_047298430.1:p.Arg715His, XP_047298432.1:p.Arg707Leu, XP_047298432.1:p.Arg707His, XP_047298435.1:p.Arg707Leu, XP_047298435.1:p.Arg707His, XP_047298427.1:p.Arg739Leu, XP_047298427.1:p.Arg739His, XP_047298429.1:p.Arg715Leu, XP_047298429.1:p.Arg715His, XP_047298433.1:p.Arg707Leu, XP_047298433.1:p.Arg707His, XP_047298437.1:p.Arg705Leu, XP_047298437.1:p.Arg705His, XP_047298434.1:p.Arg707Leu, XP_047298434.1:p.Arg707His, XP_047298436.1:p.Arg707Leu, XP_047298436.1:p.Arg707His, XP_047298438.1:p.Arg705Leu, XP_047298438.1:p.Arg705His, XP_047298439.1:p.Arg619Leu, XP_047298439.1:p.Arg619His, XP_047298440.1:p.Arg619Leu, XP_047298440.1:p.Arg619His

                  9.

                  rs144970008 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A,T [Show Flanks]
                    Chromosome:
                    X:47447773 (GRCh38)
                    X:47307172 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:47447772:G:A,NC_000023.11:47447772:G:T
                    Gene:
                    ZNF41 (Varview)
                    Functional Consequence:
                    coding_sequence_variant,missense_variant
                    Clinical significance:
                    benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.002986/530 (ALFA)
                    G=0./0 (SGDP_PRJ)
                    A=0.001515/16 (GoESP)
                    A=0.001733/180 (GnomAD)
                    A=0.001806/478 (TOPMED)
                    A=0.001873/1 (MGP)
                    A=0.002157/8 (TWINSUK)
                    A=0.002838/249 (ExAC)
                    A=0.002944/540 (GnomAD_exomes)
                    A=0.005192/15 (ALSPAC)
                    A=0.005411/20 (1000Genomes)
                    A=0.009259/1 (Qatari)
                    HGVS:
                    NC_000023.11:g.47447773G>A, NC_000023.11:g.47447773G>T, NC_000023.10:g.47307172G>A, NC_000023.10:g.47307172G>T, NG_008238.1:g.40174C>T, NG_008238.1:g.40174C>A, NM_007130.4:c.1997C>T, NM_007130.4:c.1997C>A, NM_007130.3:c.1997C>T, NM_007130.3:c.1997C>A, NM_007130.2:c.1997C>T, NM_007130.2:c.1997C>A, NM_153380.3:c.1997C>T, NM_153380.3:c.1997C>A, NM_153380.2:c.1997C>T, NM_153380.2:c.1997C>A, NM_001324150.2:c.1997C>T, NM_001324150.2:c.1997C>A, NM_001324150.1:c.1997C>T, NM_001324150.1:c.1997C>A, NM_001324152.2:c.1739C>T, NM_001324152.2:c.1739C>A, NM_001324152.1:c.1739C>T, NM_001324152.1:c.1739C>A, NM_001324151.2:c.2027C>T, NM_001324151.2:c.2027C>A, NM_001324151.1:c.2027C>T, NM_001324151.1:c.2027C>A, NM_001324148.2:c.2003C>T, NM_001324148.2:c.2003C>A, NM_001324148.1:c.2003C>T, NM_001324148.1:c.2003C>A, NM_001324144.2:c.1997C>T, NM_001324144.2:c.1997C>A, NM_001324144.1:c.1997C>T, NM_001324144.1:c.1997C>A, NM_001324147.2:c.1997C>T, NM_001324147.2:c.1997C>A, NM_001324147.1:c.1997C>T, NM_001324147.1:c.1997C>A, NM_001324153.2:c.2027C>T, NM_001324153.2:c.2027C>A, NM_001324153.1:c.2027C>T, NM_001324153.1:c.2027C>A, NM_001324142.2:c.2003C>T, NM_001324142.2:c.2003C>A, NM_001324142.1:c.2003C>T, NM_001324142.1:c.2003C>A, NM_001324140.2:c.1997C>T, NM_001324140.2:c.1997C>A, NM_001324140.1:c.1997C>T, NM_001324140.1:c.1997C>A, NM_001324149.2:c.1739C>T, NM_001324149.2:c.1739C>A, NM_001324149.1:c.1739C>T, NM_001324149.1:c.1739C>A, NM_001324143.2:c.1739C>T, NM_001324143.2:c.1739C>A, NM_001324143.1:c.1739C>T, NM_001324143.1:c.1739C>A, NM_001324145.2:c.1739C>T, NM_001324145.2:c.1739C>A, NM_001324145.1:c.1739C>T, NM_001324145.1:c.1739C>A, NM_001324141.2:c.1739C>T, NM_001324141.2:c.1739C>A, NM_001324141.1:c.1739C>T, NM_001324141.1:c.1739C>A, NM_001324139.2:c.1739C>T, NM_001324139.2:c.1739C>A, NM_001324139.1:c.1739C>T, NM_001324139.1:c.1739C>A, NM_001324155.1:c.2123C>T, NM_001324155.1:c.2123C>A, NM_001324154.1:c.2099C>T, NM_001324154.1:c.2099C>A, NM_001324156.1:c.1895C>T, NM_001324156.1:c.1895C>A, NM_001324157.1:c.1889C>T, NM_001324157.1:c.1889C>A, XM_006724550.4:c.2099C>T, XM_006724550.4:c.2099C>A, XM_006724550.3:c.2099C>T, XM_006724550.3:c.2099C>A, XM_006724550.2:c.2099C>T, XM_006724550.2:c.2099C>A, XM_006724550.1:c.2099C>T, XM_006724550.1:c.2099C>A, XM_006724555.4:c.2027C>T, XM_006724555.4:c.2027C>A, XM_006724555.3:c.2027C>T, XM_006724555.3:c.2027C>A, XM_006724555.2:c.2027C>T, XM_006724555.2:c.2027C>A, XM_006724555.1:c.2027C>T, XM_006724555.1:c.2027C>A, XM_017029811.3:c.2099C>T, XM_017029811.3:c.2099C>A, XM_017029811.2:c.2099C>T, XM_017029811.2:c.2099C>A, XM_017029811.1:c.2099C>T, XM_017029811.1:c.2099C>A, XM_017029810.3:c.2099C>T, XM_017029810.3:c.2099C>A, XM_017029810.2:c.2099C>T, XM_017029810.2:c.2099C>A, XM_017029810.1:c.2099C>T, XM_017029810.1:c.2099C>A, XM_017029814.3:c.2099C>T, XM_017029814.3:c.2099C>A, XM_017029814.2:c.2099C>T, XM_017029814.2:c.2099C>A, XM_017029814.1:c.2099C>T, XM_017029814.1:c.2099C>A, XM_017029812.2:c.2099C>T, XM_017029812.2:c.2099C>A, XM_017029812.1:c.2099C>T, XM_017029812.1:c.2099C>A, XM_017029813.2:c.2099C>T, XM_017029813.2:c.2099C>A, XM_017029813.1:c.2099C>T, XM_017029813.1:c.2099C>A, XM_017029815.2:c.2099C>T, XM_017029815.2:c.2099C>A, XM_017029815.1:c.2099C>T, XM_017029815.1:c.2099C>A, XM_017029816.2:c.2027C>T, XM_017029816.2:c.2027C>A, XM_017029816.1:c.2027C>T, XM_017029816.1:c.2027C>A, XM_017029817.2:c.1997C>T, XM_017029817.2:c.1997C>A, XM_017029817.1:c.1997C>T, XM_017029817.1:c.1997C>A, XM_047442475.1:c.2003C>T, XM_047442475.1:c.2003C>A, XM_047442472.1:c.2027C>T, XM_047442472.1:c.2027C>A, XM_047442474.1:c.2027C>T, XM_047442474.1:c.2027C>A, XM_047442476.1:c.2003C>T, XM_047442476.1:c.2003C>A, XM_047442479.1:c.2003C>T, XM_047442479.1:c.2003C>A, XM_047442471.1:c.2099C>T, XM_047442471.1:c.2099C>A, XM_047442473.1:c.2027C>T, XM_047442473.1:c.2027C>A, XM_047442477.1:c.2003C>T, XM_047442477.1:c.2003C>A, XM_047442481.1:c.1997C>T, XM_047442481.1:c.1997C>A, XM_047442478.1:c.2003C>T, XM_047442478.1:c.2003C>A, XM_047442480.1:c.2003C>T, XM_047442480.1:c.2003C>A, XM_047442482.1:c.1997C>T, XM_047442482.1:c.1997C>A, XM_047442483.1:c.1739C>T, XM_047442483.1:c.1739C>A, XM_047442484.1:c.1739C>T, XM_047442484.1:c.1739C>A, NP_009061.1:p.Ala666Val, NP_009061.1:p.Ala666Asp, NP_700359.1:p.Ala666Val, NP_700359.1:p.Ala666Asp, NP_001311079.1:p.Ala666Val, NP_001311079.1:p.Ala666Asp, NP_001311081.1:p.Ala580Val, NP_001311081.1:p.Ala580Asp, NP_001311080.1:p.Ala676Val, NP_001311080.1:p.Ala676Asp, NP_001311077.1:p.Ala668Val, NP_001311077.1:p.Ala668Asp, NP_001311073.1:p.Ala666Val, NP_001311073.1:p.Ala666Asp, NP_001311076.1:p.Ala666Val, NP_001311076.1:p.Ala666Asp, NP_001311082.1:p.Ala676Val, NP_001311082.1:p.Ala676Asp, NP_001311071.1:p.Ala668Val, NP_001311071.1:p.Ala668Asp, NP_001311069.1:p.Ala666Val, NP_001311069.1:p.Ala666Asp, NP_001311078.1:p.Ala580Val, NP_001311078.1:p.Ala580Asp, NP_001311072.1:p.Ala580Val, NP_001311072.1:p.Ala580Asp, NP_001311074.1:p.Ala580Val, NP_001311074.1:p.Ala580Asp, NP_001311070.1:p.Ala580Val, NP_001311070.1:p.Ala580Asp, NP_001311068.1:p.Ala580Val, NP_001311068.1:p.Ala580Asp, NP_001311084.1:p.Ala708Val, NP_001311084.1:p.Ala708Asp, NP_001311083.1:p.Ala700Val, NP_001311083.1:p.Ala700Asp, NP_001311085.1:p.Ala632Val, NP_001311085.1:p.Ala632Asp, NP_001311086.1:p.Ala630Val, NP_001311086.1:p.Ala630Asp, XP_006724613.1:p.Ala700Val, XP_006724613.1:p.Ala700Asp, XP_006724618.1:p.Ala676Val, XP_006724618.1:p.Ala676Asp, XP_016885300.1:p.Ala700Val, XP_016885300.1:p.Ala700Asp, XP_016885299.1:p.Ala700Val, XP_016885299.1:p.Ala700Asp, XP_016885303.1:p.Ala700Val, XP_016885303.1:p.Ala700Asp, XP_016885301.1:p.Ala700Val, XP_016885301.1:p.Ala700Asp, XP_016885302.1:p.Ala700Val, XP_016885302.1:p.Ala700Asp, XP_016885304.1:p.Ala700Val, XP_016885304.1:p.Ala700Asp, XP_016885305.1:p.Ala676Val, XP_016885305.1:p.Ala676Asp, XP_016885306.1:p.Ala666Val, XP_016885306.1:p.Ala666Asp, XP_047298431.1:p.Ala668Val, XP_047298431.1:p.Ala668Asp, XP_047298428.1:p.Ala676Val, XP_047298428.1:p.Ala676Asp, XP_047298430.1:p.Ala676Val, XP_047298430.1:p.Ala676Asp, XP_047298432.1:p.Ala668Val, XP_047298432.1:p.Ala668Asp, XP_047298435.1:p.Ala668Val, XP_047298435.1:p.Ala668Asp, XP_047298427.1:p.Ala700Val, XP_047298427.1:p.Ala700Asp, XP_047298429.1:p.Ala676Val, XP_047298429.1:p.Ala676Asp, XP_047298433.1:p.Ala668Val, XP_047298433.1:p.Ala668Asp, XP_047298437.1:p.Ala666Val, XP_047298437.1:p.Ala666Asp, XP_047298434.1:p.Ala668Val, XP_047298434.1:p.Ala668Asp, XP_047298436.1:p.Ala668Val, XP_047298436.1:p.Ala668Asp, XP_047298438.1:p.Ala666Val, XP_047298438.1:p.Ala666Asp, XP_047298439.1:p.Ala580Val, XP_047298439.1:p.Ala580Asp, XP_047298440.1:p.Ala580Val, XP_047298440.1:p.Ala580Asp

                    10.

                    rs145129774 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      T>A [Show Flanks]
                      Chromosome:
                      X:47447555 (GRCh38)
                      X:47306954 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:47447554:T:A
                      Gene:
                      ZNF41 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,missense_variant
                      Clinical significance:
                      uncertain-significance
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      A=0.00026/23 (ALFA)
                      A=0.000524/96 (GnomAD_exomes)
                      A=0.000809/71 (ExAC)
                      A=0.001741/182 (GnomAD)
                      A=0.002146/568 (TOPMED)
                      A=0.002272/24 (GoESP)
                      A=0.002497/9 (1000Genomes)
                      HGVS:
                      NC_000023.11:g.47447555T>A, NC_000023.10:g.47306954T>A, NG_008238.1:g.40392A>T, NM_007130.4:c.2215A>T, NM_007130.3:c.2215A>T, NM_007130.2:c.2215A>T, NM_153380.3:c.2215A>T, NM_153380.2:c.2215A>T, NM_001324150.2:c.2215A>T, NM_001324150.1:c.2215A>T, NM_001324152.2:c.1957A>T, NM_001324152.1:c.1957A>T, NM_001324151.2:c.2245A>T, NM_001324151.1:c.2245A>T, NM_001324148.2:c.2221A>T, NM_001324148.1:c.2221A>T, NM_001324144.2:c.2215A>T, NM_001324144.1:c.2215A>T, NM_001324147.2:c.2215A>T, NM_001324147.1:c.2215A>T, NM_001324153.2:c.2245A>T, NM_001324153.1:c.2245A>T, NM_001324142.2:c.2221A>T, NM_001324142.1:c.2221A>T, NM_001324140.2:c.2215A>T, NM_001324140.1:c.2215A>T, NM_001324149.2:c.1957A>T, NM_001324149.1:c.1957A>T, NM_001324143.2:c.1957A>T, NM_001324143.1:c.1957A>T, NM_001324145.2:c.1957A>T, NM_001324145.1:c.1957A>T, NM_001324141.2:c.1957A>T, NM_001324141.1:c.1957A>T, NM_001324139.2:c.1957A>T, NM_001324139.1:c.1957A>T, NM_001324155.1:c.2341A>T, NM_001324154.1:c.2317A>T, NM_001324156.1:c.2113A>T, NM_001324157.1:c.2107A>T, XM_006724550.4:c.2317A>T, XM_006724550.3:c.2317A>T, XM_006724550.2:c.2317A>T, XM_006724550.1:c.2317A>T, XM_006724555.4:c.2245A>T, XM_006724555.3:c.2245A>T, XM_006724555.2:c.2245A>T, XM_006724555.1:c.2245A>T, XM_017029811.3:c.2317A>T, XM_017029811.2:c.2317A>T, XM_017029811.1:c.2317A>T, XM_017029810.3:c.2317A>T, XM_017029810.2:c.2317A>T, XM_017029810.1:c.2317A>T, XM_017029814.3:c.2317A>T, XM_017029814.2:c.2317A>T, XM_017029814.1:c.2317A>T, XM_017029812.2:c.2317A>T, XM_017029812.1:c.2317A>T, XM_017029813.2:c.2317A>T, XM_017029813.1:c.2317A>T, XM_017029815.2:c.2317A>T, XM_017029815.1:c.2317A>T, XM_017029816.2:c.2245A>T, XM_017029816.1:c.2245A>T, XM_017029817.2:c.2215A>T, XM_017029817.1:c.2215A>T, XM_047442475.1:c.2221A>T, XM_047442472.1:c.2245A>T, XM_047442474.1:c.2245A>T, XM_047442476.1:c.2221A>T, XM_047442479.1:c.2221A>T, XM_047442471.1:c.2317A>T, XM_047442473.1:c.2245A>T, XM_047442477.1:c.2221A>T, XM_047442481.1:c.2215A>T, XM_047442478.1:c.2221A>T, XM_047442480.1:c.2221A>T, XM_047442482.1:c.2215A>T, XM_047442483.1:c.1957A>T, XM_047442484.1:c.1957A>T, NP_009061.1:p.Ile739Leu, NP_700359.1:p.Ile739Leu, NP_001311079.1:p.Ile739Leu, NP_001311081.1:p.Ile653Leu, NP_001311080.1:p.Ile749Leu, NP_001311077.1:p.Ile741Leu, NP_001311073.1:p.Ile739Leu, NP_001311076.1:p.Ile739Leu, NP_001311082.1:p.Ile749Leu, NP_001311071.1:p.Ile741Leu, NP_001311069.1:p.Ile739Leu, NP_001311078.1:p.Ile653Leu, NP_001311072.1:p.Ile653Leu, NP_001311074.1:p.Ile653Leu, NP_001311070.1:p.Ile653Leu, NP_001311068.1:p.Ile653Leu, NP_001311084.1:p.Ile781Leu, NP_001311083.1:p.Ile773Leu, NP_001311085.1:p.Ile705Leu, NP_001311086.1:p.Ile703Leu, XP_006724613.1:p.Ile773Leu, XP_006724618.1:p.Ile749Leu, XP_016885300.1:p.Ile773Leu, XP_016885299.1:p.Ile773Leu, XP_016885303.1:p.Ile773Leu, XP_016885301.1:p.Ile773Leu, XP_016885302.1:p.Ile773Leu, XP_016885304.1:p.Ile773Leu, XP_016885305.1:p.Ile749Leu, XP_016885306.1:p.Ile739Leu, XP_047298431.1:p.Ile741Leu, XP_047298428.1:p.Ile749Leu, XP_047298430.1:p.Ile749Leu, XP_047298432.1:p.Ile741Leu, XP_047298435.1:p.Ile741Leu, XP_047298427.1:p.Ile773Leu, XP_047298429.1:p.Ile749Leu, XP_047298433.1:p.Ile741Leu, XP_047298437.1:p.Ile739Leu, XP_047298434.1:p.Ile741Leu, XP_047298436.1:p.Ile741Leu, XP_047298438.1:p.Ile739Leu, XP_047298439.1:p.Ile653Leu, XP_047298440.1:p.Ile653Leu

                      11.

                      rs148585367 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        T>C [Show Flanks]
                        Chromosome:
                        X:47449180 (GRCh38)
                        X:47308579 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:47449179:T:C
                        Gene:
                        ZNF41 (Varview)
                        Functional Consequence:
                        coding_sequence_variant,missense_variant
                        Clinical significance:
                        likely-benign,benign
                        Validated:
                        by frequency,by alfa,by cluster
                        MAF:
                        C=0.00456/829 (ALFA)
                        C=0.002706/10 (1000Genomes)
                        C=0.00286/757 (TOPMED)
                        C=0.002884/253 (ExAC)
                        C=0.002961/308 (GnomAD)
                        C=0.003007/551 (GnomAD_exomes)
                        C=0.003124/33 (GoESP)
                        C=0.005618/3 (MGP)
                        C=0.006742/25 (TWINSUK)
                        C=0.009346/27 (ALSPAC)
                        T=0.5/1 (SGDP_PRJ)
                        HGVS:
                        NC_000023.11:g.47449180T>C, NC_000023.10:g.47308579T>C, NG_008238.1:g.38767A>G, NM_007130.4:c.590A>G, NM_007130.3:c.590A>G, NM_007130.2:c.590A>G, NM_153380.3:c.590A>G, NM_153380.2:c.590A>G, NM_001324150.2:c.590A>G, NM_001324150.1:c.590A>G, NM_001324152.2:c.332A>G, NM_001324152.1:c.332A>G, NM_001324151.2:c.620A>G, NM_001324151.1:c.620A>G, NM_001324148.2:c.596A>G, NM_001324148.1:c.596A>G, NM_001324144.2:c.590A>G, NM_001324144.1:c.590A>G, NM_001324147.2:c.590A>G, NM_001324147.1:c.590A>G, NM_001324153.2:c.620A>G, NM_001324153.1:c.620A>G, NM_001324142.2:c.596A>G, NM_001324142.1:c.596A>G, NM_001324140.2:c.590A>G, NM_001324140.1:c.590A>G, NM_001324149.2:c.332A>G, NM_001324149.1:c.332A>G, NM_001324143.2:c.332A>G, NM_001324143.1:c.332A>G, NM_001324145.2:c.332A>G, NM_001324145.1:c.332A>G, NM_001324141.2:c.332A>G, NM_001324141.1:c.332A>G, NM_001324139.2:c.332A>G, NM_001324139.1:c.332A>G, NM_001324155.1:c.716A>G, NM_001324154.1:c.692A>G, NM_001324156.1:c.488A>G, NM_001324157.1:c.482A>G, XM_006724550.4:c.692A>G, XM_006724550.3:c.692A>G, XM_006724550.2:c.692A>G, XM_006724550.1:c.692A>G, XM_006724555.4:c.620A>G, XM_006724555.3:c.620A>G, XM_006724555.2:c.620A>G, XM_006724555.1:c.620A>G, XM_017029811.3:c.692A>G, XM_017029811.2:c.692A>G, XM_017029811.1:c.692A>G, XM_017029810.3:c.692A>G, XM_017029810.2:c.692A>G, XM_017029810.1:c.692A>G, XM_017029814.3:c.692A>G, XM_017029814.2:c.692A>G, XM_017029814.1:c.692A>G, XM_017029812.2:c.692A>G, XM_017029812.1:c.692A>G, XM_017029813.2:c.692A>G, XM_017029813.1:c.692A>G, XM_017029815.2:c.692A>G, XM_017029815.1:c.692A>G, XM_017029816.2:c.620A>G, XM_017029816.1:c.620A>G, XM_017029817.2:c.590A>G, XM_017029817.1:c.590A>G, XM_047442475.1:c.596A>G, XM_047442472.1:c.620A>G, XM_047442474.1:c.620A>G, XM_047442476.1:c.596A>G, XM_047442479.1:c.596A>G, XM_047442471.1:c.692A>G, XM_047442473.1:c.620A>G, XM_047442477.1:c.596A>G, XM_047442481.1:c.590A>G, XM_047442478.1:c.596A>G, XM_047442480.1:c.596A>G, XM_047442482.1:c.590A>G, XM_047442483.1:c.332A>G, XM_047442484.1:c.332A>G, NP_009061.1:p.Lys197Arg, NP_700359.1:p.Lys197Arg, NP_001311079.1:p.Lys197Arg, NP_001311081.1:p.Lys111Arg, NP_001311080.1:p.Lys207Arg, NP_001311077.1:p.Lys199Arg, NP_001311073.1:p.Lys197Arg, NP_001311076.1:p.Lys197Arg, NP_001311082.1:p.Lys207Arg, NP_001311071.1:p.Lys199Arg, NP_001311069.1:p.Lys197Arg, NP_001311078.1:p.Lys111Arg, NP_001311072.1:p.Lys111Arg, NP_001311074.1:p.Lys111Arg, NP_001311070.1:p.Lys111Arg, NP_001311068.1:p.Lys111Arg, NP_001311084.1:p.Lys239Arg, NP_001311083.1:p.Lys231Arg, NP_001311085.1:p.Lys163Arg, NP_001311086.1:p.Lys161Arg, XP_006724613.1:p.Lys231Arg, XP_006724618.1:p.Lys207Arg, XP_016885300.1:p.Lys231Arg, XP_016885299.1:p.Lys231Arg, XP_016885303.1:p.Lys231Arg, XP_016885301.1:p.Lys231Arg, XP_016885302.1:p.Lys231Arg, XP_016885304.1:p.Lys231Arg, XP_016885305.1:p.Lys207Arg, XP_016885306.1:p.Lys197Arg, XP_047298431.1:p.Lys199Arg, XP_047298428.1:p.Lys207Arg, XP_047298430.1:p.Lys207Arg, XP_047298432.1:p.Lys199Arg, XP_047298435.1:p.Lys199Arg, XP_047298427.1:p.Lys231Arg, XP_047298429.1:p.Lys207Arg, XP_047298433.1:p.Lys199Arg, XP_047298437.1:p.Lys197Arg, XP_047298434.1:p.Lys199Arg, XP_047298436.1:p.Lys199Arg, XP_047298438.1:p.Lys197Arg, XP_047298439.1:p.Lys111Arg, XP_047298440.1:p.Lys111Arg

                        12.

                        rs148848609 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          A>T [Show Flanks]
                          Chromosome:
                          X:47448192 (GRCh38)
                          X:47307591 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:47448191:A:T
                          Gene:
                          ZNF41 (Varview)
                          Functional Consequence:
                          coding_sequence_variant,synonymous_variant
                          Clinical significance:
                          benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          T=0.004799/132 (ALFA)
                          T=0.001249/5 (1000Genomes)
                          T=0.001806/478 (TOPMED)
                          T=0.002272/24 (GoESP)
                          T=0.002464/452 (GnomAD_exomes)
                          T=0.002508/220 (ExAC)
                          T=0.00279/290 (GnomAD)
                          T=0.002967/11 (TWINSUK)
                          T=0.004154/12 (ALSPAC)
                          T=0.005618/3 (MGP)
                          A=0.5/1 (SGDP_PRJ)
                          A=0.5/1 (Siberian)
                          HGVS:
                          NC_000023.11:g.47448192A>T, NC_000023.10:g.47307591A>T, NG_008238.1:g.39755T>A, NM_007130.4:c.1578T>A, NM_007130.3:c.1578T>A, NM_007130.2:c.1578T>A, NM_153380.3:c.1578T>A, NM_153380.2:c.1578T>A, NM_001324150.2:c.1578T>A, NM_001324150.1:c.1578T>A, NM_001324152.2:c.1320T>A, NM_001324152.1:c.1320T>A, NM_001324151.2:c.1608T>A, NM_001324151.1:c.1608T>A, NM_001324148.2:c.1584T>A, NM_001324148.1:c.1584T>A, NM_001324144.2:c.1578T>A, NM_001324144.1:c.1578T>A, NM_001324147.2:c.1578T>A, NM_001324147.1:c.1578T>A, NM_001324153.2:c.1608T>A, NM_001324153.1:c.1608T>A, NM_001324142.2:c.1584T>A, NM_001324142.1:c.1584T>A, NM_001324140.2:c.1578T>A, NM_001324140.1:c.1578T>A, NM_001324149.2:c.1320T>A, NM_001324149.1:c.1320T>A, NM_001324143.2:c.1320T>A, NM_001324143.1:c.1320T>A, NM_001324145.2:c.1320T>A, NM_001324145.1:c.1320T>A, NM_001324141.2:c.1320T>A, NM_001324141.1:c.1320T>A, NM_001324139.2:c.1320T>A, NM_001324139.1:c.1320T>A, NM_001324155.1:c.1704T>A, NM_001324154.1:c.1680T>A, NM_001324156.1:c.1476T>A, NM_001324157.1:c.1470T>A, XM_006724550.4:c.1680T>A, XM_006724550.3:c.1680T>A, XM_006724550.2:c.1680T>A, XM_006724550.1:c.1680T>A, XM_006724555.4:c.1608T>A, XM_006724555.3:c.1608T>A, XM_006724555.2:c.1608T>A, XM_006724555.1:c.1608T>A, XM_017029811.3:c.1680T>A, XM_017029811.2:c.1680T>A, XM_017029811.1:c.1680T>A, XM_017029810.3:c.1680T>A, XM_017029810.2:c.1680T>A, XM_017029810.1:c.1680T>A, XM_017029814.3:c.1680T>A, XM_017029814.2:c.1680T>A, XM_017029814.1:c.1680T>A, XM_017029812.2:c.1680T>A, XM_017029812.1:c.1680T>A, XM_017029813.2:c.1680T>A, XM_017029813.1:c.1680T>A, XM_017029815.2:c.1680T>A, XM_017029815.1:c.1680T>A, XM_017029816.2:c.1608T>A, XM_017029816.1:c.1608T>A, XM_017029817.2:c.1578T>A, XM_017029817.1:c.1578T>A, XM_047442475.1:c.1584T>A, XM_047442472.1:c.1608T>A, XM_047442474.1:c.1608T>A, XM_047442476.1:c.1584T>A, XM_047442479.1:c.1584T>A, XM_047442471.1:c.1680T>A, XM_047442473.1:c.1608T>A, XM_047442477.1:c.1584T>A, XM_047442481.1:c.1578T>A, XM_047442478.1:c.1584T>A, XM_047442480.1:c.1584T>A, XM_047442482.1:c.1578T>A, XM_047442483.1:c.1320T>A, XM_047442484.1:c.1320T>A

                          13.

                          rs200141273 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            C>T [Show Flanks]
                            Chromosome:
                            X:47456383 (GRCh38)
                            X:47315782 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:47456382:C:T
                            Gene:
                            ZNF41 (Varview)
                            Functional Consequence:
                            5_prime_UTR_variant,missense_variant,coding_sequence_variant
                            Clinical significance:
                            likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            T=0.000361/60 (ALFA)
                            T=0./0 (TWINSUK)
                            T=0.000189/2 (GoESP)
                            T=0.000241/21 (ExAC)
                            T=0.000294/54 (GnomAD_exomes)
                            T=0.000337/35 (GnomAD)
                            T=0.000355/94 (TOPMED)
                            T=0.000692/2 (ALSPAC)
                            T=0.001873/1 (MGP)
                            HGVS:
                            NC_000023.11:g.47456383C>T, NC_000023.10:g.47315782C>T, NG_008238.1:g.31564G>A, NM_007130.4:c.88G>A, NM_007130.3:c.88G>A, NM_007130.2:c.88G>A, NM_153380.3:c.88G>A, NM_153380.2:c.88G>A, NM_001324150.2:c.88G>A, NM_001324150.1:c.88G>A, NM_001324152.2:c.-171G>A, NM_001324152.1:c.-171G>A, NM_001324151.2:c.118G>A, NM_001324151.1:c.118G>A, NM_001324148.2:c.94G>A, NM_001324148.1:c.94G>A, NM_001324144.2:c.88G>A, NM_001324144.1:c.88G>A, NM_001324147.2:c.88G>A, NM_001324147.1:c.88G>A, NM_001324153.2:c.118G>A, NM_001324153.1:c.118G>A, NM_001324142.2:c.94G>A, NM_001324142.1:c.94G>A, NM_001324140.2:c.88G>A, NM_001324140.1:c.88G>A, NM_001324149.2:c.-171G>A, NM_001324149.1:c.-171G>A, NM_001324143.2:c.-171G>A, NM_001324143.1:c.-171G>A, NM_001324145.2:c.-171G>A, NM_001324145.1:c.-171G>A, NM_001324141.2:c.-171G>A, NM_001324141.1:c.-171G>A, NM_001324139.2:c.-171G>A, NM_001324139.1:c.-171G>A, NM_001324155.1:c.214G>A, NM_001324154.1:c.190G>A, NM_001324156.1:c.94G>A, NM_001324157.1:c.88G>A, XM_006724550.4:c.190G>A, XM_006724550.3:c.190G>A, XM_006724550.2:c.190G>A, XM_006724550.1:c.190G>A, XM_006724555.4:c.118G>A, XM_006724555.3:c.118G>A, XM_006724555.2:c.118G>A, XM_006724555.1:c.118G>A, XM_017029811.3:c.190G>A, XM_017029811.2:c.190G>A, XM_017029811.1:c.190G>A, XM_017029810.3:c.190G>A, XM_017029810.2:c.190G>A, XM_017029810.1:c.190G>A, XM_017029814.3:c.190G>A, XM_017029814.2:c.190G>A, XM_017029814.1:c.190G>A, XM_017029812.2:c.190G>A, XM_017029812.1:c.190G>A, XM_017029813.2:c.190G>A, XM_017029813.1:c.190G>A, XM_017029815.2:c.190G>A, XM_017029815.1:c.190G>A, XM_017029816.2:c.118G>A, XM_017029816.1:c.118G>A, XM_017029817.2:c.88G>A, XM_017029817.1:c.88G>A, XM_047442475.1:c.94G>A, XM_047442472.1:c.118G>A, XM_047442474.1:c.118G>A, XM_047442476.1:c.94G>A, XM_047442479.1:c.94G>A, XM_047442471.1:c.190G>A, XM_047442473.1:c.118G>A, XM_047442477.1:c.94G>A, XM_047442481.1:c.88G>A, XM_047442478.1:c.94G>A, XM_047442480.1:c.94G>A, XM_047442482.1:c.88G>A, XM_047442483.1:c.-171G>A, XM_047442484.1:c.-171G>A, NP_009061.1:p.Glu30Lys, NP_700359.1:p.Glu30Lys, NP_001311079.1:p.Glu30Lys, NP_001311080.1:p.Glu40Lys, NP_001311077.1:p.Glu32Lys, NP_001311073.1:p.Glu30Lys, NP_001311076.1:p.Glu30Lys, NP_001311082.1:p.Glu40Lys, NP_001311071.1:p.Glu32Lys, NP_001311069.1:p.Glu30Lys, NP_001311084.1:p.Glu72Lys, NP_001311083.1:p.Glu64Lys, NP_001311085.1:p.Glu32Lys, NP_001311086.1:p.Glu30Lys, XP_006724613.1:p.Glu64Lys, XP_006724618.1:p.Glu40Lys, XP_016885300.1:p.Glu64Lys, XP_016885299.1:p.Glu64Lys, XP_016885303.1:p.Glu64Lys, XP_016885301.1:p.Glu64Lys, XP_016885302.1:p.Glu64Lys, XP_016885304.1:p.Glu64Lys, XP_016885305.1:p.Glu40Lys, XP_016885306.1:p.Glu30Lys, XP_047298431.1:p.Glu32Lys, XP_047298428.1:p.Glu40Lys, XP_047298430.1:p.Glu40Lys, XP_047298432.1:p.Glu32Lys, XP_047298435.1:p.Glu32Lys, XP_047298427.1:p.Glu64Lys, XP_047298429.1:p.Glu40Lys, XP_047298433.1:p.Glu32Lys, XP_047298437.1:p.Glu30Lys, XP_047298434.1:p.Glu32Lys, XP_047298436.1:p.Glu32Lys, XP_047298438.1:p.Glu30Lys

                            14.

                            rs200168272 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              CGCGTG>-,CGCGTGCGCGTG [Show Flanks]
                              Chromosome:
                              X:47482612 (GRCh38)
                              X:47342011 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:47482600:GCGTGCGCGTGCGCGTG:GCGTGCGCGTG,NC_000023.11:47482600:GCGTGCGCGTGCGCGTG:GCGTGCGCGTGCGCGTGCGCGTG
                              Gene:
                              ZNF41 (Varview), LINC01560 (Varview)
                              Functional Consequence:
                              upstream_transcript_variant,5_prime_UTR_variant,2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant
                              Clinical significance:
                              uncertain-significance
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GCGTGCGCGTGCGCGTGCGCGTG=0.001068/15 (ALFA)
                              GCGTGC=0.000312/4 (TOMMO)
                              GCGTGC=0.000829/86 (GnomAD)
                              GCGTGC=0.001126/298 (TOPMED)
                              HGVS:

                              15.

                              rs200332017 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                C>T [Show Flanks]
                                Chromosome:
                                X:47448076 (GRCh38)
                                X:47307475 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:47448075:C:T
                                Gene:
                                ZNF41 (Varview)
                                Functional Consequence:
                                missense_variant,coding_sequence_variant
                                Clinical significance:
                                likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                T=0.000018/3 (ALFA)
                                T=0.000023/2 (ExAC)
                                T=0.000023/6 (TOPMED)
                                T=0.000027/5 (GnomAD_exomes)
                                T=0.000029/3 (GnomAD)
                                T=0.000095/1 (GoESP)
                                HGVS:
                                NC_000023.11:g.47448076C>T, NC_000023.10:g.47307475C>T, NG_008238.1:g.39871G>A, NM_007130.4:c.1694G>A, NM_007130.3:c.1694G>A, NM_007130.2:c.1694G>A, NM_153380.3:c.1694G>A, NM_153380.2:c.1694G>A, NM_001324150.2:c.1694G>A, NM_001324150.1:c.1694G>A, NM_001324152.2:c.1436G>A, NM_001324152.1:c.1436G>A, NM_001324151.2:c.1724G>A, NM_001324151.1:c.1724G>A, NM_001324148.2:c.1700G>A, NM_001324148.1:c.1700G>A, NM_001324144.2:c.1694G>A, NM_001324144.1:c.1694G>A, NM_001324147.2:c.1694G>A, NM_001324147.1:c.1694G>A, NM_001324153.2:c.1724G>A, NM_001324153.1:c.1724G>A, NM_001324142.2:c.1700G>A, NM_001324142.1:c.1700G>A, NM_001324140.2:c.1694G>A, NM_001324140.1:c.1694G>A, NM_001324149.2:c.1436G>A, NM_001324149.1:c.1436G>A, NM_001324143.2:c.1436G>A, NM_001324143.1:c.1436G>A, NM_001324145.2:c.1436G>A, NM_001324145.1:c.1436G>A, NM_001324141.2:c.1436G>A, NM_001324141.1:c.1436G>A, NM_001324139.2:c.1436G>A, NM_001324139.1:c.1436G>A, NM_001324155.1:c.1820G>A, NM_001324154.1:c.1796G>A, NM_001324156.1:c.1592G>A, NM_001324157.1:c.1586G>A, XM_006724550.4:c.1796G>A, XM_006724550.3:c.1796G>A, XM_006724550.2:c.1796G>A, XM_006724550.1:c.1796G>A, XM_006724555.4:c.1724G>A, XM_006724555.3:c.1724G>A, XM_006724555.2:c.1724G>A, XM_006724555.1:c.1724G>A, XM_017029811.3:c.1796G>A, XM_017029811.2:c.1796G>A, XM_017029811.1:c.1796G>A, XM_017029810.3:c.1796G>A, XM_017029810.2:c.1796G>A, XM_017029810.1:c.1796G>A, XM_017029814.3:c.1796G>A, XM_017029814.2:c.1796G>A, XM_017029814.1:c.1796G>A, XM_017029812.2:c.1796G>A, XM_017029812.1:c.1796G>A, XM_017029813.2:c.1796G>A, XM_017029813.1:c.1796G>A, XM_017029815.2:c.1796G>A, XM_017029815.1:c.1796G>A, XM_017029816.2:c.1724G>A, XM_017029816.1:c.1724G>A, XM_017029817.2:c.1694G>A, XM_017029817.1:c.1694G>A, XM_047442475.1:c.1700G>A, XM_047442472.1:c.1724G>A, XM_047442474.1:c.1724G>A, XM_047442476.1:c.1700G>A, XM_047442479.1:c.1700G>A, XM_047442471.1:c.1796G>A, XM_047442473.1:c.1724G>A, XM_047442477.1:c.1700G>A, XM_047442481.1:c.1694G>A, XM_047442478.1:c.1700G>A, XM_047442480.1:c.1700G>A, XM_047442482.1:c.1694G>A, XM_047442483.1:c.1436G>A, XM_047442484.1:c.1436G>A, NP_009061.1:p.Arg565His, NP_700359.1:p.Arg565His, NP_001311079.1:p.Arg565His, NP_001311081.1:p.Arg479His, NP_001311080.1:p.Arg575His, NP_001311077.1:p.Arg567His, NP_001311073.1:p.Arg565His, NP_001311076.1:p.Arg565His, NP_001311082.1:p.Arg575His, NP_001311071.1:p.Arg567His, NP_001311069.1:p.Arg565His, NP_001311078.1:p.Arg479His, NP_001311072.1:p.Arg479His, NP_001311074.1:p.Arg479His, NP_001311070.1:p.Arg479His, NP_001311068.1:p.Arg479His, NP_001311084.1:p.Arg607His, NP_001311083.1:p.Arg599His, NP_001311085.1:p.Arg531His, NP_001311086.1:p.Arg529His, XP_006724613.1:p.Arg599His, XP_006724618.1:p.Arg575His, XP_016885300.1:p.Arg599His, XP_016885299.1:p.Arg599His, XP_016885303.1:p.Arg599His, XP_016885301.1:p.Arg599His, XP_016885302.1:p.Arg599His, XP_016885304.1:p.Arg599His, XP_016885305.1:p.Arg575His, XP_016885306.1:p.Arg565His, XP_047298431.1:p.Arg567His, XP_047298428.1:p.Arg575His, XP_047298430.1:p.Arg575His, XP_047298432.1:p.Arg567His, XP_047298435.1:p.Arg567His, XP_047298427.1:p.Arg599His, XP_047298429.1:p.Arg575His, XP_047298433.1:p.Arg567His, XP_047298437.1:p.Arg565His, XP_047298434.1:p.Arg567His, XP_047298436.1:p.Arg567His, XP_047298438.1:p.Arg565His, XP_047298439.1:p.Arg479His, XP_047298440.1:p.Arg479His

                                16.

                                rs200722932 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  X:47449469 (GRCh38)
                                  X:47308868 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:47449468:C:T
                                  Gene:
                                  ZNF41 (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant,intron_variant
                                  Clinical significance:
                                  uncertain-significance
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0.000211/5 (ALFA)
                                  T=0.000059/10 (GnomAD_exomes)
                                  T=0.000136/8 (ExAC)
                                  T=0.000252/26 (GnomAD)
                                  T=0.00031/82 (TOPMED)
                                  T=0.000379/4 (GoESP)
                                  T=0.000416/2 (1000Genomes)
                                  HGVS:
                                  NC_000023.11:g.47449469C>T, NC_000023.10:g.47308868C>T, NG_008238.1:g.38478G>A, NM_007130.4:c.301G>A, NM_007130.3:c.301G>A, NM_007130.2:c.301G>A, NM_153380.3:c.301G>A, NM_153380.2:c.301G>A, NM_001324150.2:c.301G>A, NM_001324150.1:c.301G>A, NM_001324152.2:c.43G>A, NM_001324152.1:c.43G>A, NM_001324151.2:c.331G>A, NM_001324151.1:c.331G>A, NM_001324148.2:c.307G>A, NM_001324148.1:c.307G>A, NM_001324144.2:c.301G>A, NM_001324144.1:c.301G>A, NM_001324147.2:c.301G>A, NM_001324147.1:c.301G>A, NM_001324153.2:c.331G>A, NM_001324153.1:c.331G>A, NM_001324142.2:c.307G>A, NM_001324142.1:c.307G>A, NM_001324140.2:c.301G>A, NM_001324140.1:c.301G>A, NM_001324149.2:c.43G>A, NM_001324149.1:c.43G>A, NM_001324143.2:c.43G>A, NM_001324143.1:c.43G>A, NM_001324145.2:c.43G>A, NM_001324145.1:c.43G>A, NM_001324141.2:c.43G>A, NM_001324141.1:c.43G>A, NM_001324139.2:c.43G>A, NM_001324139.1:c.43G>A, NM_001324155.1:c.427G>A, NM_001324154.1:c.403G>A, XM_006724550.4:c.403G>A, XM_006724550.3:c.403G>A, XM_006724550.2:c.403G>A, XM_006724550.1:c.403G>A, XM_006724555.4:c.331G>A, XM_006724555.3:c.331G>A, XM_006724555.2:c.331G>A, XM_006724555.1:c.331G>A, XM_017029811.3:c.403G>A, XM_017029811.2:c.403G>A, XM_017029811.1:c.403G>A, XM_017029810.3:c.403G>A, XM_017029810.2:c.403G>A, XM_017029810.1:c.403G>A, XM_017029814.3:c.403G>A, XM_017029814.2:c.403G>A, XM_017029814.1:c.403G>A, XM_017029812.2:c.403G>A, XM_017029812.1:c.403G>A, XM_017029813.2:c.403G>A, XM_017029813.1:c.403G>A, XM_017029815.2:c.403G>A, XM_017029815.1:c.403G>A, XM_017029816.2:c.331G>A, XM_017029816.1:c.331G>A, XM_017029817.2:c.301G>A, XM_017029817.1:c.301G>A, XM_047442475.1:c.307G>A, XM_047442472.1:c.331G>A, XM_047442474.1:c.331G>A, XM_047442476.1:c.307G>A, XM_047442479.1:c.307G>A, XM_047442471.1:c.403G>A, XM_047442473.1:c.331G>A, XM_047442477.1:c.307G>A, XM_047442481.1:c.301G>A, XM_047442478.1:c.307G>A, XM_047442480.1:c.307G>A, XM_047442482.1:c.301G>A, XM_047442483.1:c.43G>A, XM_047442484.1:c.43G>A, NP_009061.1:p.Ala101Thr, NP_700359.1:p.Ala101Thr, NP_001311079.1:p.Ala101Thr, NP_001311081.1:p.Ala15Thr, NP_001311080.1:p.Ala111Thr, NP_001311077.1:p.Ala103Thr, NP_001311073.1:p.Ala101Thr, NP_001311076.1:p.Ala101Thr, NP_001311082.1:p.Ala111Thr, NP_001311071.1:p.Ala103Thr, NP_001311069.1:p.Ala101Thr, NP_001311078.1:p.Ala15Thr, NP_001311072.1:p.Ala15Thr, NP_001311074.1:p.Ala15Thr, NP_001311070.1:p.Ala15Thr, NP_001311068.1:p.Ala15Thr, NP_001311084.1:p.Ala143Thr, NP_001311083.1:p.Ala135Thr, XP_006724613.1:p.Ala135Thr, XP_006724618.1:p.Ala111Thr, XP_016885300.1:p.Ala135Thr, XP_016885299.1:p.Ala135Thr, XP_016885303.1:p.Ala135Thr, XP_016885301.1:p.Ala135Thr, XP_016885302.1:p.Ala135Thr, XP_016885304.1:p.Ala135Thr, XP_016885305.1:p.Ala111Thr, XP_016885306.1:p.Ala101Thr, XP_047298431.1:p.Ala103Thr, XP_047298428.1:p.Ala111Thr, XP_047298430.1:p.Ala111Thr, XP_047298432.1:p.Ala103Thr, XP_047298435.1:p.Ala103Thr, XP_047298427.1:p.Ala135Thr, XP_047298429.1:p.Ala111Thr, XP_047298433.1:p.Ala103Thr, XP_047298437.1:p.Ala101Thr, XP_047298434.1:p.Ala103Thr, XP_047298436.1:p.Ala103Thr, XP_047298438.1:p.Ala101Thr, XP_047298439.1:p.Ala15Thr, XP_047298440.1:p.Ala15Thr

                                  17.

                                  rs200971392 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,G,T [Show Flanks]
                                    Chromosome:
                                    X:47448947 (GRCh38)
                                    X:47308346 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:47448946:C:A,NC_000023.11:47448946:C:G,NC_000023.11:47448946:C:T
                                    Gene:
                                    ZNF41 (Varview)
                                    Functional Consequence:
                                    missense_variant,stop_gained,coding_sequence_variant
                                    Clinical significance:
                                    likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    T=0./0 (TWINSUK)
                                    T=0.000016/3 (GnomAD_exomes)
                                    T=0.000019/2 (GnomAD)
                                    T=0.000026/7 (TOPMED)
                                    T=0.000034/3 (ExAC)
                                    T=0.000692/2 (ALSPAC)
                                    HGVS:
                                    NC_000023.11:g.47448947C>A, NC_000023.11:g.47448947C>G, NC_000023.11:g.47448947C>T, NC_000023.10:g.47308346C>A, NC_000023.10:g.47308346C>G, NC_000023.10:g.47308346C>T, NG_008238.1:g.39000G>T, NG_008238.1:g.39000G>C, NG_008238.1:g.39000G>A, NM_007130.4:c.823G>T, NM_007130.4:c.823G>C, NM_007130.4:c.823G>A, NM_007130.3:c.823G>T, NM_007130.3:c.823G>C, NM_007130.3:c.823G>A, NM_007130.2:c.823G>T, NM_007130.2:c.823G>C, NM_007130.2:c.823G>A, NM_153380.3:c.823G>T, NM_153380.3:c.823G>C, NM_153380.3:c.823G>A, NM_153380.2:c.823G>T, NM_153380.2:c.823G>C, NM_153380.2:c.823G>A, NM_001324150.2:c.823G>T, NM_001324150.2:c.823G>C, NM_001324150.2:c.823G>A, NM_001324150.1:c.823G>T, NM_001324150.1:c.823G>C, NM_001324150.1:c.823G>A, NM_001324152.2:c.565G>T, NM_001324152.2:c.565G>C, NM_001324152.2:c.565G>A, NM_001324152.1:c.565G>T, NM_001324152.1:c.565G>C, NM_001324152.1:c.565G>A, NM_001324151.2:c.853G>T, NM_001324151.2:c.853G>C, NM_001324151.2:c.853G>A, NM_001324151.1:c.853G>T, NM_001324151.1:c.853G>C, NM_001324151.1:c.853G>A, NM_001324148.2:c.829G>T, NM_001324148.2:c.829G>C, NM_001324148.2:c.829G>A, NM_001324148.1:c.829G>T, NM_001324148.1:c.829G>C, NM_001324148.1:c.829G>A, NM_001324144.2:c.823G>T, NM_001324144.2:c.823G>C, NM_001324144.2:c.823G>A, NM_001324144.1:c.823G>T, NM_001324144.1:c.823G>C, NM_001324144.1:c.823G>A, NM_001324147.2:c.823G>T, NM_001324147.2:c.823G>C, NM_001324147.2:c.823G>A, NM_001324147.1:c.823G>T, NM_001324147.1:c.823G>C, NM_001324147.1:c.823G>A, NM_001324153.2:c.853G>T, NM_001324153.2:c.853G>C, NM_001324153.2:c.853G>A, NM_001324153.1:c.853G>T, NM_001324153.1:c.853G>C, NM_001324153.1:c.853G>A, NM_001324142.2:c.829G>T, NM_001324142.2:c.829G>C, NM_001324142.2:c.829G>A, NM_001324142.1:c.829G>T, NM_001324142.1:c.829G>C, NM_001324142.1:c.829G>A, NM_001324140.2:c.823G>T, NM_001324140.2:c.823G>C, NM_001324140.2:c.823G>A, NM_001324140.1:c.823G>T, NM_001324140.1:c.823G>C, NM_001324140.1:c.823G>A, NM_001324149.2:c.565G>T, NM_001324149.2:c.565G>C, NM_001324149.2:c.565G>A, NM_001324149.1:c.565G>T, NM_001324149.1:c.565G>C, NM_001324149.1:c.565G>A, NM_001324143.2:c.565G>T, NM_001324143.2:c.565G>C, NM_001324143.2:c.565G>A, NM_001324143.1:c.565G>T, NM_001324143.1:c.565G>C, NM_001324143.1:c.565G>A, NM_001324145.2:c.565G>T, NM_001324145.2:c.565G>C, NM_001324145.2:c.565G>A, NM_001324145.1:c.565G>T, NM_001324145.1:c.565G>C, NM_001324145.1:c.565G>A, NM_001324141.2:c.565G>T, NM_001324141.2:c.565G>C, NM_001324141.2:c.565G>A, NM_001324141.1:c.565G>T, NM_001324141.1:c.565G>C, NM_001324141.1:c.565G>A, NM_001324139.2:c.565G>T, NM_001324139.2:c.565G>C, NM_001324139.2:c.565G>A, NM_001324139.1:c.565G>T, NM_001324139.1:c.565G>C, NM_001324139.1:c.565G>A, NM_001324155.1:c.949G>T, NM_001324155.1:c.949G>C, NM_001324155.1:c.949G>A, NM_001324154.1:c.925G>T, NM_001324154.1:c.925G>C, NM_001324154.1:c.925G>A, NM_001324156.1:c.721G>T, NM_001324156.1:c.721G>C, NM_001324156.1:c.721G>A, NM_001324157.1:c.715G>T, NM_001324157.1:c.715G>C, NM_001324157.1:c.715G>A, XM_006724550.4:c.925G>T, XM_006724550.4:c.925G>C, XM_006724550.4:c.925G>A, XM_006724550.3:c.925G>T, XM_006724550.3:c.925G>C, XM_006724550.3:c.925G>A, XM_006724550.2:c.925G>T, XM_006724550.2:c.925G>C, XM_006724550.2:c.925G>A, XM_006724550.1:c.925G>T, XM_006724550.1:c.925G>C, XM_006724550.1:c.925G>A, XM_006724555.4:c.853G>T, XM_006724555.4:c.853G>C, XM_006724555.4:c.853G>A, XM_006724555.3:c.853G>T, XM_006724555.3:c.853G>C, XM_006724555.3:c.853G>A, XM_006724555.2:c.853G>T, XM_006724555.2:c.853G>C, XM_006724555.2:c.853G>A, XM_006724555.1:c.853G>T, XM_006724555.1:c.853G>C, XM_006724555.1:c.853G>A, XM_017029811.3:c.925G>T, XM_017029811.3:c.925G>C, XM_017029811.3:c.925G>A, XM_017029811.2:c.925G>T, XM_017029811.2:c.925G>C, XM_017029811.2:c.925G>A, XM_017029811.1:c.925G>T, XM_017029811.1:c.925G>C, XM_017029811.1:c.925G>A, XM_017029810.3:c.925G>T, XM_017029810.3:c.925G>C, XM_017029810.3:c.925G>A, XM_017029810.2:c.925G>T, XM_017029810.2:c.925G>C, XM_017029810.2:c.925G>A, XM_017029810.1:c.925G>T, XM_017029810.1:c.925G>C, XM_017029810.1:c.925G>A, XM_017029814.3:c.925G>T, XM_017029814.3:c.925G>C, XM_017029814.3:c.925G>A, XM_017029814.2:c.925G>T, XM_017029814.2:c.925G>C, XM_017029814.2:c.925G>A, XM_017029814.1:c.925G>T, XM_017029814.1:c.925G>C, XM_017029814.1:c.925G>A, XM_017029812.2:c.925G>T, XM_017029812.2:c.925G>C, XM_017029812.2:c.925G>A, XM_017029812.1:c.925G>T, XM_017029812.1:c.925G>C, XM_017029812.1:c.925G>A, XM_017029813.2:c.925G>T, XM_017029813.2:c.925G>C, XM_017029813.2:c.925G>A, XM_017029813.1:c.925G>T, XM_017029813.1:c.925G>C, XM_017029813.1:c.925G>A, XM_017029815.2:c.925G>T, XM_017029815.2:c.925G>C, XM_017029815.2:c.925G>A, XM_017029815.1:c.925G>T, XM_017029815.1:c.925G>C, XM_017029815.1:c.925G>A, XM_017029816.2:c.853G>T, XM_017029816.2:c.853G>C, XM_017029816.2:c.853G>A, XM_017029816.1:c.853G>T, XM_017029816.1:c.853G>C, XM_017029816.1:c.853G>A, XM_017029817.2:c.823G>T, XM_017029817.2:c.823G>C, XM_017029817.2:c.823G>A, XM_017029817.1:c.823G>T, XM_017029817.1:c.823G>C, XM_017029817.1:c.823G>A, XM_047442475.1:c.829G>T, XM_047442475.1:c.829G>C, XM_047442475.1:c.829G>A, XM_047442472.1:c.853G>T, XM_047442472.1:c.853G>C, XM_047442472.1:c.853G>A, XM_047442474.1:c.853G>T, XM_047442474.1:c.853G>C, XM_047442474.1:c.853G>A, XM_047442476.1:c.829G>T, XM_047442476.1:c.829G>C, XM_047442476.1:c.829G>A, XM_047442479.1:c.829G>T, XM_047442479.1:c.829G>C, XM_047442479.1:c.829G>A, XM_047442471.1:c.925G>T, XM_047442471.1:c.925G>C, XM_047442471.1:c.925G>A, XM_047442473.1:c.853G>T, XM_047442473.1:c.853G>C, XM_047442473.1:c.853G>A, XM_047442477.1:c.829G>T, XM_047442477.1:c.829G>C, XM_047442477.1:c.829G>A, XM_047442481.1:c.823G>T, XM_047442481.1:c.823G>C, XM_047442481.1:c.823G>A, XM_047442478.1:c.829G>T, XM_047442478.1:c.829G>C, XM_047442478.1:c.829G>A, XM_047442480.1:c.829G>T, XM_047442480.1:c.829G>C, XM_047442480.1:c.829G>A, XM_047442482.1:c.823G>T, XM_047442482.1:c.823G>C, XM_047442482.1:c.823G>A, XM_047442483.1:c.565G>T, XM_047442483.1:c.565G>C, XM_047442483.1:c.565G>A, XM_047442484.1:c.565G>T, XM_047442484.1:c.565G>C, XM_047442484.1:c.565G>A, NP_009061.1:p.Glu275Ter, NP_009061.1:p.Glu275Gln, NP_009061.1:p.Glu275Lys, NP_700359.1:p.Glu275Ter, NP_700359.1:p.Glu275Gln, NP_700359.1:p.Glu275Lys, NP_001311079.1:p.Glu275Ter, NP_001311079.1:p.Glu275Gln, NP_001311079.1:p.Glu275Lys, NP_001311081.1:p.Glu189Ter, NP_001311081.1:p.Glu189Gln, NP_001311081.1:p.Glu189Lys, NP_001311080.1:p.Glu285Ter, NP_001311080.1:p.Glu285Gln, NP_001311080.1:p.Glu285Lys, NP_001311077.1:p.Glu277Ter, NP_001311077.1:p.Glu277Gln, NP_001311077.1:p.Glu277Lys, NP_001311073.1:p.Glu275Ter, NP_001311073.1:p.Glu275Gln, NP_001311073.1:p.Glu275Lys, NP_001311076.1:p.Glu275Ter, NP_001311076.1:p.Glu275Gln, NP_001311076.1:p.Glu275Lys, NP_001311082.1:p.Glu285Ter, NP_001311082.1:p.Glu285Gln, NP_001311082.1:p.Glu285Lys, NP_001311071.1:p.Glu277Ter, NP_001311071.1:p.Glu277Gln, NP_001311071.1:p.Glu277Lys, NP_001311069.1:p.Glu275Ter, NP_001311069.1:p.Glu275Gln, NP_001311069.1:p.Glu275Lys, NP_001311078.1:p.Glu189Ter, NP_001311078.1:p.Glu189Gln, NP_001311078.1:p.Glu189Lys, NP_001311072.1:p.Glu189Ter, NP_001311072.1:p.Glu189Gln, NP_001311072.1:p.Glu189Lys, NP_001311074.1:p.Glu189Ter, NP_001311074.1:p.Glu189Gln, NP_001311074.1:p.Glu189Lys, NP_001311070.1:p.Glu189Ter, NP_001311070.1:p.Glu189Gln, NP_001311070.1:p.Glu189Lys, NP_001311068.1:p.Glu189Ter, NP_001311068.1:p.Glu189Gln, NP_001311068.1:p.Glu189Lys, NP_001311084.1:p.Glu317Ter, NP_001311084.1:p.Glu317Gln, NP_001311084.1:p.Glu317Lys, NP_001311083.1:p.Glu309Ter, NP_001311083.1:p.Glu309Gln, NP_001311083.1:p.Glu309Lys, NP_001311085.1:p.Glu241Ter, NP_001311085.1:p.Glu241Gln, NP_001311085.1:p.Glu241Lys, NP_001311086.1:p.Glu239Ter, NP_001311086.1:p.Glu239Gln, NP_001311086.1:p.Glu239Lys, XP_006724613.1:p.Glu309Ter, XP_006724613.1:p.Glu309Gln, XP_006724613.1:p.Glu309Lys, XP_006724618.1:p.Glu285Ter, XP_006724618.1:p.Glu285Gln, XP_006724618.1:p.Glu285Lys, XP_016885300.1:p.Glu309Ter, XP_016885300.1:p.Glu309Gln, XP_016885300.1:p.Glu309Lys, XP_016885299.1:p.Glu309Ter, XP_016885299.1:p.Glu309Gln, XP_016885299.1:p.Glu309Lys, XP_016885303.1:p.Glu309Ter, XP_016885303.1:p.Glu309Gln, XP_016885303.1:p.Glu309Lys, XP_016885301.1:p.Glu309Ter, XP_016885301.1:p.Glu309Gln, XP_016885301.1:p.Glu309Lys, XP_016885302.1:p.Glu309Ter, XP_016885302.1:p.Glu309Gln, XP_016885302.1:p.Glu309Lys, XP_016885304.1:p.Glu309Ter, XP_016885304.1:p.Glu309Gln, XP_016885304.1:p.Glu309Lys, XP_016885305.1:p.Glu285Ter, XP_016885305.1:p.Glu285Gln, XP_016885305.1:p.Glu285Lys, XP_016885306.1:p.Glu275Ter, XP_016885306.1:p.Glu275Gln, XP_016885306.1:p.Glu275Lys, XP_047298431.1:p.Glu277Ter, XP_047298431.1:p.Glu277Gln, XP_047298431.1:p.Glu277Lys, XP_047298428.1:p.Glu285Ter, XP_047298428.1:p.Glu285Gln, XP_047298428.1:p.Glu285Lys, XP_047298430.1:p.Glu285Ter, XP_047298430.1:p.Glu285Gln, XP_047298430.1:p.Glu285Lys, XP_047298432.1:p.Glu277Ter, XP_047298432.1:p.Glu277Gln, XP_047298432.1:p.Glu277Lys, XP_047298435.1:p.Glu277Ter, XP_047298435.1:p.Glu277Gln, XP_047298435.1:p.Glu277Lys, XP_047298427.1:p.Glu309Ter, XP_047298427.1:p.Glu309Gln, XP_047298427.1:p.Glu309Lys, XP_047298429.1:p.Glu285Ter, XP_047298429.1:p.Glu285Gln, XP_047298429.1:p.Glu285Lys, XP_047298433.1:p.Glu277Ter, XP_047298433.1:p.Glu277Gln, XP_047298433.1:p.Glu277Lys, XP_047298437.1:p.Glu275Ter, XP_047298437.1:p.Glu275Gln, XP_047298437.1:p.Glu275Lys, XP_047298434.1:p.Glu277Ter, XP_047298434.1:p.Glu277Gln, XP_047298434.1:p.Glu277Lys, XP_047298436.1:p.Glu277Ter, XP_047298436.1:p.Glu277Gln, XP_047298436.1:p.Glu277Lys, XP_047298438.1:p.Glu275Ter, XP_047298438.1:p.Glu275Gln, XP_047298438.1:p.Glu275Lys, XP_047298439.1:p.Glu189Ter, XP_047298439.1:p.Glu189Gln, XP_047298439.1:p.Glu189Lys, XP_047298440.1:p.Glu189Ter, XP_047298440.1:p.Glu189Gln, XP_047298440.1:p.Glu189Lys

                                    18.

                                    rs201140907 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      T>C,G [Show Flanks]
                                      Chromosome:
                                      X:47456440 (GRCh38)
                                      X:47315839 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:47456439:T:C,NC_000023.11:47456439:T:G
                                      Gene:
                                      ZNF41 (Varview)
                                      Functional Consequence:
                                      splice_acceptor_variant,intron_variant
                                      Clinical significance:
                                      uncertain-significance
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      G=0.000469/53 (ALFA)
                                      G=0.00027/1 (TWINSUK)
                                      G=0.000646/118 (GnomAD_exomes)
                                      G=0.000681/56 (ExAC)
                                      G=0.000692/2 (ALSPAC)
                                      G=0.001219/127 (GnomAD)
                                      G=0.001288/341 (TOPMED)
                                      G=0.001325/14 (GoESP)
                                      G=0.005618/3 (MGP)
                                      HGVS:

                                      19.

                                      rs368078047 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        T>A,C [Show Flanks]
                                        Chromosome:
                                        X:47449093 (GRCh38)
                                        X:47308492 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:47449092:T:A,NC_000023.11:47449092:T:C
                                        Gene:
                                        ZNF41 (Varview)
                                        Functional Consequence:
                                        missense_variant,coding_sequence_variant
                                        Clinical significance:
                                        benign
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        A=0.000727/20 (ALFA)
                                        A=0./0 (ALSPAC)
                                        A=0.000095/1 (GoESP)
                                        A=0.000185/49 (TOPMED)
                                        A=0.000231/24 (GnomAD)
                                        A=0.00027/1 (TWINSUK)
                                        HGVS:
                                        NC_000023.11:g.47449093T>A, NC_000023.11:g.47449093T>C, NC_000023.10:g.47308492T>A, NC_000023.10:g.47308492T>C, NG_008238.1:g.38854A>T, NG_008238.1:g.38854A>G, NM_007130.4:c.677A>T, NM_007130.4:c.677A>G, NM_007130.3:c.677A>T, NM_007130.3:c.677A>G, NM_007130.2:c.677A>T, NM_007130.2:c.677A>G, NM_153380.3:c.677A>T, NM_153380.3:c.677A>G, NM_153380.2:c.677A>T, NM_153380.2:c.677A>G, NM_001324150.2:c.677A>T, NM_001324150.2:c.677A>G, NM_001324150.1:c.677A>T, NM_001324150.1:c.677A>G, NM_001324152.2:c.419A>T, NM_001324152.2:c.419A>G, NM_001324152.1:c.419A>T, NM_001324152.1:c.419A>G, NM_001324151.2:c.707A>T, NM_001324151.2:c.707A>G, NM_001324151.1:c.707A>T, NM_001324151.1:c.707A>G, NM_001324148.2:c.683A>T, NM_001324148.2:c.683A>G, NM_001324148.1:c.683A>T, NM_001324148.1:c.683A>G, NM_001324144.2:c.677A>T, NM_001324144.2:c.677A>G, NM_001324144.1:c.677A>T, NM_001324144.1:c.677A>G, NM_001324147.2:c.677A>T, NM_001324147.2:c.677A>G, NM_001324147.1:c.677A>T, NM_001324147.1:c.677A>G, NM_001324153.2:c.707A>T, NM_001324153.2:c.707A>G, NM_001324153.1:c.707A>T, NM_001324153.1:c.707A>G, NM_001324142.2:c.683A>T, NM_001324142.2:c.683A>G, NM_001324142.1:c.683A>T, NM_001324142.1:c.683A>G, NM_001324140.2:c.677A>T, NM_001324140.2:c.677A>G, NM_001324140.1:c.677A>T, NM_001324140.1:c.677A>G, NM_001324149.2:c.419A>T, NM_001324149.2:c.419A>G, NM_001324149.1:c.419A>T, NM_001324149.1:c.419A>G, NM_001324143.2:c.419A>T, NM_001324143.2:c.419A>G, NM_001324143.1:c.419A>T, NM_001324143.1:c.419A>G, NM_001324145.2:c.419A>T, NM_001324145.2:c.419A>G, NM_001324145.1:c.419A>T, NM_001324145.1:c.419A>G, NM_001324141.2:c.419A>T, NM_001324141.2:c.419A>G, NM_001324141.1:c.419A>T, NM_001324141.1:c.419A>G, NM_001324139.2:c.419A>T, NM_001324139.2:c.419A>G, NM_001324139.1:c.419A>T, NM_001324139.1:c.419A>G, NM_001324155.1:c.803A>T, NM_001324155.1:c.803A>G, NM_001324154.1:c.779A>T, NM_001324154.1:c.779A>G, NM_001324156.1:c.575A>T, NM_001324156.1:c.575A>G, NM_001324157.1:c.569A>T, NM_001324157.1:c.569A>G, XM_006724550.4:c.779A>T, XM_006724550.4:c.779A>G, XM_006724550.3:c.779A>T, XM_006724550.3:c.779A>G, XM_006724550.2:c.779A>T, XM_006724550.2:c.779A>G, XM_006724550.1:c.779A>T, XM_006724550.1:c.779A>G, XM_006724555.4:c.707A>T, XM_006724555.4:c.707A>G, XM_006724555.3:c.707A>T, XM_006724555.3:c.707A>G, XM_006724555.2:c.707A>T, XM_006724555.2:c.707A>G, XM_006724555.1:c.707A>T, XM_006724555.1:c.707A>G, XM_017029811.3:c.779A>T, XM_017029811.3:c.779A>G, XM_017029811.2:c.779A>T, XM_017029811.2:c.779A>G, XM_017029811.1:c.779A>T, XM_017029811.1:c.779A>G, XM_017029810.3:c.779A>T, XM_017029810.3:c.779A>G, XM_017029810.2:c.779A>T, XM_017029810.2:c.779A>G, XM_017029810.1:c.779A>T, XM_017029810.1:c.779A>G, XM_017029814.3:c.779A>T, XM_017029814.3:c.779A>G, XM_017029814.2:c.779A>T, XM_017029814.2:c.779A>G, XM_017029814.1:c.779A>T, XM_017029814.1:c.779A>G, XM_017029812.2:c.779A>T, XM_017029812.2:c.779A>G, XM_017029812.1:c.779A>T, XM_017029812.1:c.779A>G, XM_017029813.2:c.779A>T, XM_017029813.2:c.779A>G, XM_017029813.1:c.779A>T, XM_017029813.1:c.779A>G, XM_017029815.2:c.779A>T, XM_017029815.2:c.779A>G, XM_017029815.1:c.779A>T, XM_017029815.1:c.779A>G, XM_017029816.2:c.707A>T, XM_017029816.2:c.707A>G, XM_017029816.1:c.707A>T, XM_017029816.1:c.707A>G, XM_017029817.2:c.677A>T, XM_017029817.2:c.677A>G, XM_017029817.1:c.677A>T, XM_017029817.1:c.677A>G, XM_047442475.1:c.683A>T, XM_047442475.1:c.683A>G, XM_047442472.1:c.707A>T, XM_047442472.1:c.707A>G, XM_047442474.1:c.707A>T, XM_047442474.1:c.707A>G, XM_047442476.1:c.683A>T, XM_047442476.1:c.683A>G, XM_047442479.1:c.683A>T, XM_047442479.1:c.683A>G, XM_047442471.1:c.779A>T, XM_047442471.1:c.779A>G, XM_047442473.1:c.707A>T, XM_047442473.1:c.707A>G, XM_047442477.1:c.683A>T, XM_047442477.1:c.683A>G, XM_047442481.1:c.677A>T, XM_047442481.1:c.677A>G, XM_047442478.1:c.683A>T, XM_047442478.1:c.683A>G, XM_047442480.1:c.683A>T, XM_047442480.1:c.683A>G, XM_047442482.1:c.677A>T, XM_047442482.1:c.677A>G, XM_047442483.1:c.419A>T, XM_047442483.1:c.419A>G, XM_047442484.1:c.419A>T, XM_047442484.1:c.419A>G, NP_009061.1:p.His226Leu, NP_009061.1:p.His226Arg, NP_700359.1:p.His226Leu, NP_700359.1:p.His226Arg, NP_001311079.1:p.His226Leu, NP_001311079.1:p.His226Arg, NP_001311081.1:p.His140Leu, NP_001311081.1:p.His140Arg, NP_001311080.1:p.His236Leu, NP_001311080.1:p.His236Arg, NP_001311077.1:p.His228Leu, NP_001311077.1:p.His228Arg, NP_001311073.1:p.His226Leu, NP_001311073.1:p.His226Arg, NP_001311076.1:p.His226Leu, NP_001311076.1:p.His226Arg, NP_001311082.1:p.His236Leu, NP_001311082.1:p.His236Arg, NP_001311071.1:p.His228Leu, NP_001311071.1:p.His228Arg, NP_001311069.1:p.His226Leu, NP_001311069.1:p.His226Arg, NP_001311078.1:p.His140Leu, NP_001311078.1:p.His140Arg, NP_001311072.1:p.His140Leu, NP_001311072.1:p.His140Arg, NP_001311074.1:p.His140Leu, NP_001311074.1:p.His140Arg, NP_001311070.1:p.His140Leu, NP_001311070.1:p.His140Arg, NP_001311068.1:p.His140Leu, NP_001311068.1:p.His140Arg, NP_001311084.1:p.His268Leu, NP_001311084.1:p.His268Arg, NP_001311083.1:p.His260Leu, NP_001311083.1:p.His260Arg, NP_001311085.1:p.His192Leu, NP_001311085.1:p.His192Arg, NP_001311086.1:p.His190Leu, NP_001311086.1:p.His190Arg, XP_006724613.1:p.His260Leu, XP_006724613.1:p.His260Arg, XP_006724618.1:p.His236Leu, XP_006724618.1:p.His236Arg, XP_016885300.1:p.His260Leu, XP_016885300.1:p.His260Arg, XP_016885299.1:p.His260Leu, XP_016885299.1:p.His260Arg, XP_016885303.1:p.His260Leu, XP_016885303.1:p.His260Arg, XP_016885301.1:p.His260Leu, XP_016885301.1:p.His260Arg, XP_016885302.1:p.His260Leu, XP_016885302.1:p.His260Arg, XP_016885304.1:p.His260Leu, XP_016885304.1:p.His260Arg, XP_016885305.1:p.His236Leu, XP_016885305.1:p.His236Arg, XP_016885306.1:p.His226Leu, XP_016885306.1:p.His226Arg, XP_047298431.1:p.His228Leu, XP_047298431.1:p.His228Arg, XP_047298428.1:p.His236Leu, XP_047298428.1:p.His236Arg, XP_047298430.1:p.His236Leu, XP_047298430.1:p.His236Arg, XP_047298432.1:p.His228Leu, XP_047298432.1:p.His228Arg, XP_047298435.1:p.His228Leu, XP_047298435.1:p.His228Arg, XP_047298427.1:p.His260Leu, XP_047298427.1:p.His260Arg, XP_047298429.1:p.His236Leu, XP_047298429.1:p.His236Arg, XP_047298433.1:p.His228Leu, XP_047298433.1:p.His228Arg, XP_047298437.1:p.His226Leu, XP_047298437.1:p.His226Arg, XP_047298434.1:p.His228Leu, XP_047298434.1:p.His228Arg, XP_047298436.1:p.His228Leu, XP_047298436.1:p.His228Arg, XP_047298438.1:p.His226Leu, XP_047298438.1:p.His226Arg, XP_047298439.1:p.His140Leu, XP_047298439.1:p.His140Arg, XP_047298440.1:p.His140Leu, XP_047298440.1:p.His140Arg

                                        20.

                                        rs372112867 [Homo sapiens]
                                          Variant type:
                                          DELINS
                                          Alleles:
                                          ->CGCGCGTGCGCG,CGCGTGCGCG,CGCGTGCGCGTGCGCG [Show Flanks]
                                          Chromosome:
                                          X:47482600 (GRCh38)
                                          X:47342000 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:47482600:GCGTGCGCG:GCGTGCGCGCGCGCGTGCGCG,NC_000023.11:47482600:GCGTGCGCG:GCGTGCGCGCGCGTGCGCG,NC_000023.11:47482600:GCGTGCGCG:GCGTGCGCGCGCGTGCGCGTGCGCG
                                          Gene:
                                          ZNF41 (Varview), LINC01560 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
                                          Clinical significance:
                                          uncertain-significance
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          GCGTGCGCGCGCGTGCGCG=0.124755/1403 (ALFA)
                                          GCGTGCGCGCGCGTGC=0.000057/15 (TOPMED)
                                          GCGTGCGCGC=0.218021/2799 (TOMMO)
                                          GCGTGCGCGC=0.282105/815 (ALSPAC)
                                          GCGTGCGCGC=0.286677/1063 (TWINSUK)
                                          GCGTGCGCGC=0.3125/15 (Vietnamese)
                                          GCGTGCGCGC=0.4/16 (GENOME_DK)
                                          HGVS:

                                          Display Settings:

                                          Format
                                          Items per page
                                          Sort by

                                          Send to:

                                          Choose Destination

                                          Supplemental Content

                                          Filters: Manage Filters

                                          Find related data

                                          Search details

                                          See more...

                                          Recent activity

                                          Clear Turn Off Turn On

                                          Your browsing activity is empty.

                                          Activity recording is turned off.

                                          Turn recording back on

                                          See more...