ClinVar Miner

List of variants studied for Von Willebrand disease type 2B by ClinGen von Willebrand Disease Variant Curation Expert Panel, ClinGen

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3929C>T (p.Ser1310Phe) rs61749390
NM_000552.5(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3941T>A (p.Val1314Asp) rs61749394
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403

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