ClinVar Miner

List of variants studied for von Willebrand disease type 1; von Willebrand disease type 3

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00054
NM_000552.5(VWF):c.5665-9C>A rs201789774 0.00041
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00012
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.4842T>G (p.Asp1614Glu) rs1335546904
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329

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