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Items: 2

1.

rs759582686 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>T [Show Flanks]
    Chromosome:
    3:197976083 (GRCh38)
    3:197702954 (GRCh37)
    Canonical SPDI:
    NC_000003.12:197976082:C:T
    Gene:
    LMLN (Varview)
    Functional Consequence:
    non_coding_transcript_variant,coding_sequence_variant,stop_gained
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    T=0./0 (ALFA)
    T=0.000004/1 (GnomAD_exomes)
    T=0.000004/1 (TOPMED)
    T=0.000008/1 (ExAC)
    T=0.000014/2 (GnomAD)
    HGVS:
    2.

    rs1412428621 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      3:197702954 (GRCh38)
      3:197429825 (GRCh37)
      Canonical SPDI:
      NC_000003.12:197702953:T:C
      Gene:
      RUBCN (Varview)
      Functional Consequence:
      intron_variant
      Validated:
      by frequency,by alfa
      MAF:
      C=0.0002/1 (ALFA)
      C=0.0002/1 (Estonian)
      HGVS:

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