ClinVar Miner

List of variants studied for von Willebrand disease type 3 by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214

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