ClinVar Miner

List of variants studied for von Willebrand disease type 3 by OMIM

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630

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