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Items: 2

1.

rs140638 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    T>C [Show Flanks]
    Chromosome:
    15:48474593 (GRCh38)
    15:48766790 (GRCh37)
    Canonical SPDI:
    NC_000015.10:48474592:T:C
    Gene:
    FBN1 (Varview)
    Functional Consequence:
    coding_sequence_variant,missense_variant
    Clinical significance:
    uncertain-significance,likely-pathogenic,pathogenic
    Validated:
    by frequency,by alfa,by cluster
    MAF:
    C=0./0 (ALFA)
    C=0./0 (HapMap)
    HGVS:

    LitVar

    2.

    rs386530808 has merged into rs140638 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      T>C [Show Flanks]
      Chromosome:
      15:48474593 (GRCh38)
      15:48766790 (GRCh37)
      Canonical SPDI:
      NC_000015.10:48474592:T:C
      Gene:
      FBN1 (Varview)
      Functional Consequence:
      coding_sequence_variant,missense_variant
      Clinical significance:
      uncertain-significance,likely-pathogenic,pathogenic
      Validated:
      by frequency,by alfa,by cluster
      MAF:
      C=0./0 (ALFA)
      C=0./0 (HapMap)
      HGVS:

      Supplemental Content

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