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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Genetic Variation in the von Willebrand Factor Gene in Swedish von Willebrand Disease Patients
    1
    1. ClingenBaseline 21 Oct 2026
      rs617484666155892c.2278C > T17p.R760C10.0000232N

      Case: n.a.

      DiseaseAssertion: VWD 2N

      FamilyInfo: n.a.

      ParentalGenotype(s):n.a.

      CasePresentingHPOs:n.a.

      CaseHPOFreeRext:n.a.

      CaseNOTHPOs:n.a.

      CaseNOTHPOFreeText:n.a.

      CasePreviousTesting:n.a.

      GenotypingMethod:n.a.

      PreviouslyPublished: If applicable.n.a.

      Gene:VWF

      Variant:NM_000552.5(VWF):c.2278C>T (p.Arg760Cys)

      HGVS:NM_000552.5:c.2278C>T

      ClinVarID:100208

      CAID:n.a.

      gnomAD:n.a.

      DiseaseEntity:VWD2N ClinVarID:100208 inferred_gene_hgnc:3097 inferred_gene_source:ClinVar ClinGen VWF
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    ncbi.nlm.nih.gov/pmc/articles/PMC6524857/