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    von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene
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    1. ClingenBaseline 22 Oct 2026
      Cohort description

      Case#: MK0251

      DiseaseAssertion: Type 2 VWD

      CaseHPOFreeText: 51 year old, female, VWF:AG LEVELS = 60

      Gene: VWF

      Variant: compound heterozygous for 4751A>G (p.Y1584C) and c.7483del (p.Leu2495CysfsTer8) variants

      ClinVar: 310 (p.Y1584C) and 631687 (p.Leu2495CysfsTer8)

      gnomAD: absent grpmax (p.Leu2495CysfsTer8), grpmax of 0.004019 based on european non finnish pop (p.Y1584C)

      InheritancePattern:AutosomalRecessive DiseaseEntity:VWD2 Mutation:Frameshift Mutation:Missense ClinVar: 310 Clinvar: 631687 Zygosity:CompoundHeterozygous inferred_gene_hgnc:12726 inferred_gene_source:Gene_Name ClinGen VWF
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    ashpublications.org/blood/article/137/23/3277/475195/von-Willebrand-factor-antigen-levels-are