ClinVar Miner

List of variants reported as pathogenic for von Willebrand disease 2

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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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.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.5347T>G (p.Ser1783Ala) rs267607353 0.00014
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.2446C>T (p.Arg816Trp) rs121964894 0.00004
NM_000552.5(VWF):c.4115T>G (p.Ile1372Ser) rs61750070 0.00004
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3917G>A (p.Arg1306Gln) rs61749385 0.00001
NM_000552.5(VWF):c.3970G>A (p.Gly1324Ser) rs61749398 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.5335C>T (p.Arg1779Ter) rs61750606 0.00001
NM_000552.5(VWF):c.5557C>T (p.Arg1853Ter) rs61750612 0.00001
NM_000552.5(VWF):c.1071C>A (p.Tyr357Ter) rs61754002
NM_000552.5(VWF):c.1092_1093del (p.Asp366fs) rs2136470486
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1648G>A (p.Gly550Arg) rs61754011
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.3178T>C (p.Cys1060Arg) rs61748497
NM_000552.5(VWF):c.3179G>A (p.Cys1060Tyr) rs267607314
NM_000552.5(VWF):c.3380-2A>G rs2136417619
NM_000552.5(VWF):c.3437A>G (p.Tyr1146Cys) rs267607326
NM_000552.5(VWF):c.3445T>C (p.Cys1149Arg) rs61748511
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln) rs61749370
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.5(VWF):c.3802C>G (p.His1268Asp) rs61749371
NM_000552.5(VWF):c.3814T>C (p.Cys1272Arg) rs61749372
NM_000552.5(VWF):c.3853T>C (p.Ser1285Pro) rs61749379
NM_000552.5(VWF):c.3854C>T (p.Ser1285Phe) rs61749380
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3877T>C (p.Phe1293Leu) rs267607335
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>T (p.Arg1306Leu) rs61749385
NM_000552.5(VWF):c.3920T>C (p.Leu1307Pro) rs61749386
NM_000552.5(VWF):c.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3939G>C (p.Trp1313Cys) rs61749392
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.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3944G>T (p.Arg1315Leu) rs61749396
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3971G>C (p.Gly1324Ala) rs61749399
NM_000552.5(VWF):c.4022G>A (p.Arg1341Gln) rs61749403
NM_000552.5(VWF):c.4120C>T (p.Arg1374Cys) rs61750071
NM_000552.5(VWF):c.4121G>A (p.Arg1374His) rs61750072
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.4496T>A (p.Val1499Glu) rs1555194979
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4541T>G (p.Phe1514Cys) rs61750101
NM_000552.5(VWF):c.4586_4591del (p.Asp1529_Val1530del)
NM_000552.5(VWF):c.4606_4611del (p.His1536_Val1537del) rs2136412203
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn) rs2136411988
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
NM_000552.5(VWF):c.4790G>A (p.Arg1597Gln) rs61750577
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4837T>C (p.Ser1613Pro) rs61750581
NM_000552.5(VWF):c.4883T>A (p.Ile1628Asn) rs61750584
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311

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