ClinVar Miner

List of variants in gene VWF studied for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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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.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.3365C>T (p.Thr1122Met) rs183119284 0.00011
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.6424C>T (p.Leu2142Phe) rs190741083 0.00006
NM_000552.5(VWF):c.6433C>T (p.Pro2145Ser) rs61750618 0.00005
NM_000552.5(VWF):c.1795G>T (p.Val599Phe)
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.3666C>A (p.Cys1222Ter)
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
NM_000552.5(VWF):c.4067C>T (p.Ser1356Phe)
NM_000552.5(VWF):c.7090A>T (p.Lys2364Ter)
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8418C>G (p.Cys2806Trp)

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