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  1. Feb 2025
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Common and Rare Variants in Genes Associated with von Willebrand Factor Level Variation: No Accumulation of Rare Variants in Swedish von Willebrand Disease Patients
    1
    1. krisBussey97 14 Feb 2025

      CLEC4M(rs753084254):c.C>T, noted as synonymous protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs113080783):c.A>G, noted as missense protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs62623420):c.A>G,noted as Splice acceptor protein effect and VarSome classifies it as a VUS.

      CLEC4M(rs868878):c.G>A, noted as synonymous protein effect and VarSome classifies it as Benign.

      CLEC4M(rs2277998):c.G>A, noted as missense protein effect and VarSome classifies it as Benign

      CLEC4M VWD Swedish cohort multiple variants GWAS
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    pmc.ncbi.nlm.nih.gov/articles/PMC7603419/