ClinVar Miner

List of variants in gene VWF studied for von Willebrand disease type 2N

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497

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