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Items: 1 to 20 of 14836

1.

rs62642549 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    G>A,C [Show Flanks]
    Chromosome:
    X:153456353 (GRCh38)
    X:152721811 (GRCh37)
    Canonical SPDI:
    NC_000023.11:153456352:G:A,NC_000023.11:153456352:G:C
    Gene:
    HAUS7 (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant,non_coding_transcript_variant
    Clinical significance:
    benign
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0.00042/37 (ALFA)
    C=0./0 (ALSPAC)
    C=0.00027/1 (TWINSUK)
    C=0.0017/311 (GnomAD_exomes)
    C=0.002238/194 (ExAC)
    C=0.006218/650 (GnomAD)
    C=0.007908/30 (1000Genomes)
    C=0.008426/89 (GoESP)
    HGVS:
    NC_000023.11:g.153456353G>A, NC_000023.11:g.153456353G>C, NC_000023.10:g.152721811G>A, NC_000023.10:g.152721811G>C, NG_012688.3:g.44173C>T, NG_012688.3:g.44173C>G, NM_017518.7:c.647C>T, NM_017518.7:c.647C>G, NR_073156.2:n.1342C>T, NR_073156.2:n.1342C>G, NR_073156.1:n.1402C>T, NR_073156.1:n.1402C>G, NW_003871103.3:g.890336G>A, NW_003871103.3:g.890336G>C, NM_007205.2:c.-905C>T, NM_007205.2:c.-905C>G, NM_207107.2:c.647C>T, NM_207107.2:c.647C>G, NM_207106.2:c.647C>T, NM_207106.2:c.647C>G, NM_080699.2:c.-759C>T, NM_080699.2:c.-759C>G, NM_080700.2:c.-496C>T, NM_080700.2:c.-496C>G, NM_001385483.1:c.617C>T, NM_001385483.1:c.617C>G, NM_080699.1:c.-759C>T, NM_080699.1:c.-759C>G, NM_080700.1:c.-496C>T, NM_080700.1:c.-496C>G, NR_169631.1:n.1297C>T, NR_169631.1:n.1297C>G, NM_207107.1:c.647C>T, NM_207107.1:c.647C>G, NM_001385481.1:c.617C>T, NM_001385481.1:c.617C>G, NM_001385482.1:c.617C>T, NM_001385482.1:c.617C>G, NM_207106.1:c.647C>T, NM_207106.1:c.647C>G, NR_169630.1:n.636C>T, NR_169630.1:n.636C>G, NP_001372412.1:p.Ser206Phe, NP_001372412.1:p.Ser206Cys, NP_001372410.1:p.Ser206Phe, NP_001372410.1:p.Ser206Cys, NP_001372411.1:p.Ser206Phe, NP_001372411.1:p.Ser206Cys

    2.

    rs111918191 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>A [Show Flanks]
      Chromosome:
      X:153457217 (GRCh38)
      X:152722675 (GRCh37)
      Canonical SPDI:
      NC_000023.11:153457216:G:A
      Gene:
      HAUS7 (Varview)
      Functional Consequence:
      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
      Clinical significance:
      benign
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      A=0.003169/73 (ALFA)
      A=0.001724/314 (GnomAD_exomes)
      A=0.002176/179 (ExAC)
      A=0.004579/17 (1000Genomes)
      A=0.005586/59 (GoESP)
      A=0.006269/659 (GnomAD)
      A=0.007076/1873 (TOPMED)
      A=0.009259/1 (Qatari)
      G=0.333333/2 (SGDP_PRJ)
      HGVS:

      3.

      rs138042855 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        C>T [Show Flanks]
        Chromosome:
        X:153455730 (GRCh38)
        X:152721188 (GRCh37)
        Canonical SPDI:
        NC_000023.11:153455729:C:T
        Gene:
        HAUS7 (Varview)
        Functional Consequence:
        coding_sequence_variant,missense_variant,intron_variant
        Clinical significance:
        likely-benign
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        T=0.000918/161 (ALFA)
        T=0.000346/1 (ALSPAC)
        T=0.000473/5 (GoESP)
        T=0.000487/129 (TOPMED)
        T=0.000497/52 (GnomAD)
        T=0.000644/56 (ExAC)
        T=0.000653/119 (GnomAD_exomes)
        T=0.001079/4 (TWINSUK)
        T=0.001249/5 (1000Genomes)
        HGVS:

        4.

        rs141525337 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          C>A,T [Show Flanks]
          Chromosome:
          X:153456603 (GRCh38)
          X:152722061 (GRCh37)
          Canonical SPDI:
          NC_000023.11:153456602:C:A,NC_000023.11:153456602:C:T
          Gene:
          HAUS7 (Varview)
          Functional Consequence:
          coding_sequence_variant,synonymous_variant,non_coding_transcript_variant
          Clinical significance:
          benign
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0.001259/29 (ALFA)
          T=0.002552/266 (GnomAD)
          T=0.002765/732 (TOPMED)
          T=0.003227/34 (GoESP)
          T=0.00333/13 (1000Genomes)
          HGVS:
          NC_000023.11:g.153456603C>A, NC_000023.11:g.153456603C>T, NC_000023.10:g.152722061C>A, NC_000023.10:g.152722061C>T, NG_012688.3:g.43923G>T, NG_012688.3:g.43923G>A, NM_017518.7:c.525G>T, NM_017518.7:c.525G>A, NR_073156.2:n.1220G>T, NR_073156.2:n.1220G>A, NR_073156.1:n.1280G>T, NR_073156.1:n.1280G>A, NW_003871103.3:g.890586C>A, NW_003871103.3:g.890586C>T, NM_007205.2:c.-1027G>T, NM_007205.2:c.-1027G>A, NM_207107.2:c.525G>T, NM_207107.2:c.525G>A, NM_207106.2:c.525G>T, NM_207106.2:c.525G>A, NM_080699.2:c.-881G>T, NM_080699.2:c.-881G>A, NM_080700.2:c.-618G>T, NM_080700.2:c.-618G>A, NM_001385483.1:c.495G>T, NM_001385483.1:c.495G>A, NM_080699.1:c.-881G>T, NM_080699.1:c.-881G>A, NM_080700.1:c.-618G>T, NM_080700.1:c.-618G>A, NR_169631.1:n.1175G>T, NR_169631.1:n.1175G>A, NM_207107.1:c.525G>T, NM_207107.1:c.525G>A, NM_001385481.1:c.495G>T, NM_001385481.1:c.495G>A, NM_001385482.1:c.495G>T, NM_001385482.1:c.495G>A, NM_207106.1:c.525G>T, NM_207106.1:c.525G>A, NR_169630.1:n.514G>T, NR_169630.1:n.514G>A

          5.

          rs187882469 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            A>G [Show Flanks]
            Chromosome:
            X:153447916 (GRCh38)
            X:152713374 (GRCh37)
            Canonical SPDI:
            NC_000023.11:153447915:A:G
            Gene:
            TREX2 (Varview), HAUS7 (Varview)
            Functional Consequence:
            2KB_upstream_variant,intron_variant,upstream_transcript_variant
            Clinical significance:
            benign
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            G=0.000996/14 (ALFA)
            G=0.000523/95 (GnomAD_exomes)
            G=0.000756/66 (ExAC)
            G=0.001665/6 (1000Genomes)
            G=0.001842/194 (GnomAD)
            G=0.002153/570 (TOPMED)
            G=0.002651/28 (GoESP)
            G=0.018519/2 (Qatari)
            HGVS:

            6.

            rs368229906 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              G>A [Show Flanks]
              Chromosome:
              X:153455638 (GRCh38)
              X:152721096 (GRCh37)
              Canonical SPDI:
              NC_000023.11:153455637:G:A
              Gene:
              HAUS7 (Varview)
              Functional Consequence:
              non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
              Clinical significance:
              likely-benign
              Validated:
              by frequency,by alfa,by cluster
              MAF:
              A=0.000142/2 (ALFA)
              A=0.000093/17 (GnomAD_exomes)
              A=0.000095/1 (GoESP)
              A=0.000103/9 (ExAC)
              A=0.000153/16 (GnomAD)
              A=0.000215/57 (TOPMED)
              A=0.000416/2 (1000Genomes)
              HGVS:

              7.

              rs371637396 [Homo sapiens]
                Variant type:
                DELINS
                Alleles:
                GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                Chromosome:
                X:153454525 (GRCh38)
                X:152719983 (GRCh37)
                Canonical SPDI:
                NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                Gene:
                HAUS7 (Varview)
                Functional Consequence:
                intron_variant
                Clinical significance:
                benign,likely-benign
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                -=0.00346/10 (ALSPAC)
                HGVS:
                NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                8.

                rs373741337 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  G>A [Show Flanks]
                  Chromosome:
                  X:153457220 (GRCh38)
                  X:152722678 (GRCh37)
                  Canonical SPDI:
                  NC_000023.11:153457219:G:A
                  Gene:
                  HAUS7 (Varview)
                  Functional Consequence:
                  coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                  Clinical significance:
                  likely-benign
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  A=0.000545/15 (ALFA)
                  A=0.000284/3 (GoESP)
                  A=0.000318/58 (GnomAD_exomes)
                  A=0.000333/35 (GnomAD)
                  A=0.000366/30 (ExAC)
                  A=0.00057/151 (TOPMED)
                  A=0.001873/1 (MGP)
                  A=0.009259/1 (Qatari)
                  HGVS:

                  9.

                  rs1210752523 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>A [Show Flanks]
                    Chromosome:
                    X:153465062 (GRCh38)
                    X:152730520 (GRCh37)
                    Canonical SPDI:
                    NC_000023.11:153465061:G:A
                    Gene:
                    HAUS7 (Varview)
                    Functional Consequence:
                    intron_variant
                    Clinical significance:
                    likely-benign
                    Validated:
                    by frequency,by alfa,by cluster
                    MAF:
                    A=0.000084/1 (ALFA)
                    A=0.00001/1 (GnomAD)
                    A=0.000011/3 (TOPMED)
                    HGVS:

                    10.

                    rs1556983598 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      G>A [Show Flanks]
                      Chromosome:
                      X:153462613 (GRCh38)
                      X:152728071 (GRCh37)
                      Canonical SPDI:
                      NC_000023.11:153462612:G:A
                      Gene:
                      HAUS7 (Varview)
                      Functional Consequence:
                      coding_sequence_variant,non_coding_transcript_variant,synonymous_variant
                      Clinical significance:
                      likely-benign
                      Validated:
                      by frequency
                      MAF:
                      A=0.000005/1 (GnomAD_exomes)
                      HGVS:

                      11.

                      rs2124093054 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        C>A [Show Flanks]
                        Chromosome:
                        X:153457227 (GRCh38)
                        X:152722685 (GRCh37)
                        Canonical SPDI:
                        NC_000023.11:153457226:C:A
                        Gene:
                        HAUS7 (Varview)
                        Functional Consequence:
                        missense_variant,coding_sequence_variant,non_coding_transcript_variant
                        Clinical significance:
                        uncertain-significance
                        HGVS:

                        12.

                        rs1218333475 has merged into rs371637396 [Homo sapiens]
                          Variant type:
                          DELINS
                          Alleles:
                          GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                          Chromosome:
                          X:153454525 (GRCh38)
                          X:152719983 (GRCh37)
                          Canonical SPDI:
                          NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                          Gene:
                          HAUS7 (Varview)
                          Functional Consequence:
                          intron_variant
                          Clinical significance:
                          benign,likely-benign
                          Validated:
                          by frequency,by alfa,by cluster
                          MAF:
                          GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                          -=0.00346/10 (ALSPAC)
                          HGVS:
                          NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                          13.

                          rs782727008 has merged into rs371637396 [Homo sapiens]
                            Variant type:
                            DELINS
                            Alleles:
                            GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                            Chromosome:
                            X:153454525 (GRCh38)
                            X:152719983 (GRCh37)
                            Canonical SPDI:
                            NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                            Gene:
                            HAUS7 (Varview)
                            Functional Consequence:
                            intron_variant
                            Clinical significance:
                            benign,likely-benign
                            Validated:
                            by frequency,by alfa,by cluster
                            MAF:
                            GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                            -=0.00346/10 (ALSPAC)
                            HGVS:
                            NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                            14.

                            rs782648275 has merged into rs371637396 [Homo sapiens]
                              Variant type:
                              DELINS
                              Alleles:
                              GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                              Chromosome:
                              X:153454525 (GRCh38)
                              X:152719983 (GRCh37)
                              Canonical SPDI:
                              NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                              Gene:
                              HAUS7 (Varview)
                              Functional Consequence:
                              intron_variant
                              Clinical significance:
                              benign,likely-benign
                              Validated:
                              by frequency,by alfa,by cluster
                              MAF:
                              GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                              -=0.00346/10 (ALSPAC)
                              HGVS:
                              NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                              15.

                              rs782065213 has merged into rs371637396 [Homo sapiens]
                                Variant type:
                                DELINS
                                Alleles:
                                GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                                Chromosome:
                                X:153454525 (GRCh38)
                                X:152719983 (GRCh37)
                                Canonical SPDI:
                                NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                                Gene:
                                HAUS7 (Varview)
                                Functional Consequence:
                                intron_variant
                                Clinical significance:
                                benign,likely-benign
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                                -=0.00346/10 (ALSPAC)
                                HGVS:
                                NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                                16.

                                rs781981697 has merged into rs371637396 [Homo sapiens]
                                  Variant type:
                                  DELINS
                                  Alleles:
                                  GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                                  Chromosome:
                                  X:153454525 (GRCh38)
                                  X:152719983 (GRCh37)
                                  Canonical SPDI:
                                  NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                                  Gene:
                                  HAUS7 (Varview)
                                  Functional Consequence:
                                  intron_variant
                                  Clinical significance:
                                  benign,likely-benign
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                                  -=0.00346/10 (ALSPAC)
                                  HGVS:
                                  NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                                  17.

                                  rs781920194 has merged into rs371637396 [Homo sapiens]
                                    Variant type:
                                    DELINS
                                    Alleles:
                                    GGAGGGAGGGAGGGAGGGAGGGAG>-,GGAG,GGAGGGAG,GGAGGGAGGGAG,GGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,GGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG [Show Flanks]
                                    Chromosome:
                                    X:153454525 (GRCh38)
                                    X:152719983 (GRCh37)
                                    Canonical SPDI:
                                    NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG,NC_000023.11:153454511:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG:GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG
                                    Gene:
                                    HAUS7 (Varview)
                                    Functional Consequence:
                                    intron_variant
                                    Clinical significance:
                                    benign,likely-benign
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG=0./0 (ALFA)
                                    -=0.00346/10 (ALSPAC)
                                    HGVS:
                                    NC_000023.11:g.153454513GGAG[3], NC_000023.11:g.153454513GGAG[4], NC_000023.11:g.153454513GGAG[5], NC_000023.11:g.153454513GGAG[6], NC_000023.11:g.153454513GGAG[7], NC_000023.11:g.153454513GGAG[8], NC_000023.11:g.153454513GGAG[10], NC_000023.11:g.153454513GGAG[11], NC_000023.11:g.153454513GGAG[12], NC_000023.11:g.153454513GGAG[13], NC_000023.10:g.152719971GGAG[3], NC_000023.10:g.152719971GGAG[4], NC_000023.10:g.152719971GGAG[5], NC_000023.10:g.152719971GGAG[6], NC_000023.10:g.152719971GGAG[7], NC_000023.10:g.152719971GGAG[8], NC_000023.10:g.152719971GGAG[10], NC_000023.10:g.152719971GGAG[11], NC_000023.10:g.152719971GGAG[12], NC_000023.10:g.152719971GGAG[13], NG_012688.3:g.45979TCCC[3], NG_012688.3:g.45979TCCC[4], NG_012688.3:g.45979TCCC[5], NG_012688.3:g.45979TCCC[6], NG_012688.3:g.45979TCCC[7], NG_012688.3:g.45979TCCC[8], NG_012688.3:g.45979TCCC[10], NG_012688.3:g.45979TCCC[11], NG_012688.3:g.45979TCCC[12], NG_012688.3:g.45979TCCC[13], NW_003871103.3:g.888496GGAG[3], NW_003871103.3:g.888496GGAG[4], NW_003871103.3:g.888496GGAG[5], NW_003871103.3:g.888496GGAG[6], NW_003871103.3:g.888496GGAG[7], NW_003871103.3:g.888496GGAG[8], NW_003871103.3:g.888496GGAG[10], NW_003871103.3:g.888496GGAG[11], NW_003871103.3:g.888496GGAG[12], NW_003871103.3:g.888496GGAG[13]

                                    18.

                                    rs17433 [Homo sapiens]
                                      Variant type:
                                      SNV
                                      Alleles:
                                      C>T [Show Flanks]
                                      Chromosome:
                                      X:153483730 (GRCh38)
                                      X:152749188 (GRCh37)
                                      Canonical SPDI:
                                      NC_000023.11:153483729:C:T
                                      Gene:
                                      HAUS7 (Varview), ECMXP (Varview)
                                      Functional Consequence:
                                      intron_variant,genic_upstream_transcript_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      C=0.35256/6528 (ALFA)
                                      C=0./0 (Vietnamese)
                                      C=0.00009/1 (TOMMO)
                                      C=0.000684/2 (KOREAN)
                                      C=0.053571/24 (SGDP_PRJ)
                                      C=0.166667/7 (Siberian)
                                      C=0.25/52 (HapMap)
                                      C=0.2564/968 (1000Genomes)
                                      C=0.33908/89751 (TOPMED)
                                      C=0.351852/38 (Qatari)
                                      C=0.352025/1017 (ALSPAC)
                                      C=0.360032/1335 (TWINSUK)
                                      C=0.425/17 (GENOME_DK)
                                      HGVS:

                                      19.

                                      rs17434 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        A>C,G [Show Flanks]
                                        Chromosome:
                                        X:153483951 (GRCh38)
                                        X:152749409 (GRCh37)
                                        Canonical SPDI:
                                        NC_000023.11:153483950:A:C,NC_000023.11:153483950:A:G
                                        Gene:
                                        HAUS7 (Varview), ECMXP (Varview)
                                        Functional Consequence:
                                        intron_variant,genic_upstream_transcript_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        G=0./0 (ALFA)
                                        C=0.025182/95 (1000Genomes)
                                        C=0.027904/2904 (GnomAD)
                                        C=0.030488/10 (HapMap)
                                        C=0.046296/5 (Qatari)
                                        A=0.166667/1 (SGDP_PRJ)
                                        HGVS:

                                        20.

                                        rs735889 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          G>C [Show Flanks]
                                          Chromosome:
                                          X:153490828 (GRCh38)
                                          X:152756286 (GRCh37)
                                          Canonical SPDI:
                                          NC_000023.11:153490827:G:C
                                          Gene:
                                          HAUS7 (Varview)
                                          Functional Consequence:
                                          intron_variant,genic_upstream_transcript_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          C=0.020214/284 (ALFA)
                                          C=0.027778/3 (Qatari)
                                          C=0.02864/2993 (GnomAD)
                                          C=0.02872/108 (1000Genomes)
                                          C=0.030334/8029 (TOPMED)
                                          G=0.2/2 (SGDP_PRJ)
                                          HGVS:

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