ClinVar Miner

List of variants in gene VWF reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP
NM_000552.4(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.4(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.4(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.4(VWF):c.221-10_532+52del
NM_000552.4(VWF):c.2279G>A (p.Arg760His) rs61748467
NM_000552.4(VWF):c.2372C>T (p.Thr791Met) rs61748477
NM_000552.4(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.4(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.4(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.4(VWF):c.2446C>T (p.Arg816Trp) rs121964894
NM_000552.4(VWF):c.2561G>A (p.Arg854Gln) rs41276738
NM_000552.4(VWF):c.2921G>A (p.Trp974Ter)
NM_000552.4(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.4(VWF):c.3379+1G>A rs2363337
NM_000552.4(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.4(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.4(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.4(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.4(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.4(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.4(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.4(VWF):c.3925A>G (p.Ile1309Val) rs61749389
NM_000552.4(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
NM_000552.4(VWF):c.3940G>C (p.Val1314Leu) rs61749393
NM_000552.4(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.4(VWF):c.3970G>A (p.Gly1324Ser) rs61749398
NM_000552.4(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.4(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.4(VWF):c.4135C>T (p.Arg1379Cys) rs61750074
NM_000552.4(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.4(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386
NM_000552.4(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.4(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.4(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.4(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.4(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.4(VWF):c.4975C>T (p.Arg1659Ter) rs61750595
NM_000552.4(VWF):c.50dup (p.Leu17fs)
NM_000552.4(VWF):c.5347T>G (p.Ser1783Ala) rs267607353
NM_000552.4(VWF):c.5557C>T (p.Arg1853Ter) rs61750612
NM_000552.4(VWF):c.5621-47_5842+51del
NM_000552.4(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.4(VWF):c.7252_7253TG[1] (p.Cys2418fs)
NM_000552.4(VWF):c.7360_7376del (p.Thr2454fs)
NM_000552.4(VWF):c.7390C>T (p.Arg2464Cys) rs61751286
NM_000552.4(VWF):c.7603C>T (p.Arg2535Ter) rs61751296
NM_000552.4(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
VWF, 6-BP INS, NT1212
VWF, 8.6-KB DEL, EX4-5
VWF, TRP1745CYS

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