ClinVar Miner

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

Included ClinVar conditions (153):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 232
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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.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.7390C>T (p.Arg2464Cys) rs61751286 0.00014
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_000552.5(VWF):c.7300C>T (p.Arg2434Ter) rs62643640 0.00006
NM_000552.5(VWF):c.2635G>A (p.Asp879Asn) rs61748485 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 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.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000552.5(VWF):c.817C>T (p.Arg273Trp) rs61753997 0.00004
NM_000552.5(VWF):c.2279G>A (p.Arg760His) rs61748467 0.00003
NM_000552.5(VWF):c.3379+1G>A rs2363337 0.00002
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1239dup (p.Leu414fs) rs770203987 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.311_312del (p.Gln104fs) rs1481396407 0.00001
NM_000552.5(VWF):c.3390C>T (p.Cys1130=) rs1591865617 0.00001
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys) rs373787920 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.4075G>A (p.Glu1359Lys) rs61749407 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.5791C>T (p.Gln1931Ter) rs1359172781 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 0.00001
NM_000552.5(VWF):c.7603C>T (p.Arg2535Ter) rs61751296 0.00001
NM_000552.5(VWF):c.7636A>T (p.Asn2546Tyr) rs61751298 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
GRCh37/hg19 12p13.31(chr12:6127530-6233842)
NC_000012.11:g.(6105389_6120782)_(6121297_6122646)del
NC_000012.11:g.(6105389_6120782)_(6220135_6230339)del
NC_000012.11:g.(6153618_6155888)_(6155984_6161708)del
NC_000012.11:g.(6161950_6166021)_(6167211_6172119)del
NC_000012.11:g.(6184718_6204625)_(6204751_6219539)del
NC_000012.11:g.(6204751_6219539)_(6220135_6230339)del
NC_000012.11:g.(6204751_6219539)_(6233842_?)del
NC_000012.11:g.(6220135_6230339)_(6233842_?)del
NC_000012.11:g.(?_6058042)_(6233837_?)del
NC_000012.11:g.(?_6058180)_(6105389_6120781)del
NC_000012.11:g.(?_6058180)_(6233842_?)del
NC_000012.11:g.6128479_6128749delins[NC_000022.10:g.17178616_17178886]
NC_000012.11:g.6128633_6128795delins[NC_000022.10:g.17178770_17178932]
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.1093C>T (p.Arg365Ter) rs61754003
NM_000552.5(VWF):c.1110-1G>T rs61754005
NM_000552.5(VWF):c.1116C>A (p.Cys372Ter) rs1250492485
NM_000552.5(VWF):c.1117C>T (p.Arg373Ter) rs62643625
NM_000552.5(VWF):c.1130G>A (p.Trp377Ter) rs1321160729
NM_000552.5(VWF):c.1213_1214insATCCCA (p.Phe404_Thr405insAsnPro) rs61754006
NM_000552.5(VWF):c.1309_1326del (p.Asp437_Arg442del) rs267607305
NM_000552.5(VWF):c.1318del (p.Cys440fs) rs2136462110
NM_000552.5(VWF):c.1320C>A (p.Cys440Ter) rs1381910966
NM_000552.5(VWF):c.1534-13_1551delinsCA rs2136456013
NM_000552.5(VWF):c.1543_1544insGGACAGCT (p.Val515fs) rs2136456030
NM_000552.5(VWF):c.1581del (p.Asn526_Tyr527insTer) rs2136455960
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.1659G>A (p.Trp553Ter) rs2136455808
NM_000552.5(VWF):c.1693C>T (p.Gln565Ter) rs750364485
NM_000552.5(VWF):c.1730-1G>T rs1591889534
NM_000552.5(VWF):c.1843dup (p.Cys615fs) rs2136454246
NM_000552.5(VWF):c.1930G>T (p.Glu644Ter) rs61748460
NM_000552.5(VWF):c.1992del (p.Cys665fs) rs1944531613
NM_000552.5(VWF):c.2018_2019del (p.Ser673fs) rs61748462
NM_000552.5(VWF):c.2071_2072delinsG (p.Pro691fs) rs2136449605
NM_000552.5(VWF):c.2072del (p.Pro691fs) rs267607309
NM_000552.5(VWF):c.2116C>T (p.Gln706Ter) rs61748463
NM_000552.5(VWF):c.2124_2125del (p.Cys709fs) rs61748464
NM_000552.5(VWF):c.221-10_532+52del rs1591924188
NM_000552.5(VWF):c.221-2A>C rs1195620730
NM_000552.5(VWF):c.221-977_532+7059del
NM_000552.5(VWF):c.229C>T (p.Gln77Ter) rs2136522827
NM_000552.5(VWF):c.2310del (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2310dup (p.Met771fs) rs776747320
NM_000552.5(VWF):c.2377C>T (p.Gln793Ter) rs2136440316
NM_000552.5(VWF):c.2384A>G (p.Tyr795Cys) rs61748478
NM_000552.5(VWF):c.2393_2396dup (p.Cys799Ter) rs2136440291
NM_000552.5(VWF):c.2397_2400dup (p.Ser801fs) rs2136440279
NM_000552.5(VWF):c.2411G>T (p.Cys804Phe) rs62643630
NM_000552.5(VWF):c.2430C>A (p.Cys810Ter) rs746648486
NM_000552.5(VWF):c.2430_2431delinsA (p.Cys810_Pro811delinsTer) rs2136440246
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.2438dup (p.Met814fs)
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2547-13T>A rs2136430770
NM_000552.5(VWF):c.2684A>G (p.Gln895Arg) rs2136430552
NM_000552.5(VWF):c.2753C>G (p.Ser918Ter) rs2136426808
NM_000552.5(VWF):c.276del (p.Phe92fs) rs61753988
NM_000552.5(VWF):c.276dup (p.Asp93Ter) rs61753988
NM_000552.5(VWF):c.2902A>T (p.Lys968Ter) rs1944232310
NM_000552.5(VWF):c.2921G>A (p.Trp974Ter) rs1591870340
NM_000552.5(VWF):c.2965dup (p.Gln989fs) rs2136424529
NM_000552.5(VWF):c.2968-14A>G rs1201852829
NM_000552.5(VWF):c.3108+2T>G rs2136420816
NM_000552.5(VWF):c.310C>T (p.Gln104Ter) rs2136522699
NM_000552.5(VWF):c.3157dup (p.Gln1053fs) rs2136420496
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.322A>T (p.Arg108Ter) rs2136522667
NM_000552.5(VWF):c.323+1G>T rs2136522662
NM_000552.5(VWF):c.3285_3307delinsTCC (p.Asp1096fs) rs2136418437
NM_000552.5(VWF):c.3360G>A (p.Trp1120Ter) rs2136418333
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.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3538G>A (p.Gly1180Arg) rs267607332
NM_000552.5(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.5(VWF):c.3614G>A (p.Arg1205His) rs121964895
NM_000552.5(VWF):c.3738_3760del (p.Pro1247fs)
NM_000552.5(VWF):c.3762del (p.Thr1255fs) rs2136413887
NM_000552.5(VWF):c.3771_3772del (p.Tyr1258fs) rs2136413869
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.3839_3849del (p.Phe1280fs) rs2136413727
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.3925A>G (p.Ile1309Val) rs61749389
NM_000552.5(VWF):c.3931C>T (p.Gln1311Ter) rs267607337
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.3940del (p.Val1314fs) rs2136413513
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.4036C>T (p.Gln1346Ter) rs61749405
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
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.414_426del (p.Arg139fs) rs1312486904
NM_000552.5(VWF):c.4213AAG[3] (p.Lys1408del) rs61750078
NM_000552.5(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4309del (p.Ala1437fs) rs2136412749
NM_000552.5(VWF):c.4413del (p.Asp1472fs) rs1565831817
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.4570del (p.Glu1523_Val1524insTer) rs61750103
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.4626C>G (p.Tyr1542Ter) rs267607343
NM_000552.5(VWF):c.4628C>T (p.Ser1543Phe) rs267607344
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4710C>A (p.Tyr1570Ter) rs2136412017
NM_000552.5(VWF):c.4733C>A (p.Thr1578Asn) rs2136411988
NM_000552.5(VWF):c.4752C>A (p.Tyr1584Ter) rs1475440343
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.4792G>T (p.Glu1598Ter) rs753701755
NM_000552.5(VWF):c.4820T>A (p.Val1607Asp) rs61750579
NM_000552.5(VWF):c.4825G>A (p.Gly1609Arg) rs61750580
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.4957del (p.Asp1653fs) rs2136411547
NM_000552.5(VWF):c.4978G>T (p.Glu1660Ter) rs2136411489
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5207del (p.Gly1736fs)
NM_000552.5(VWF):c.5235G>A (p.Trp1745Ter) rs267607352
NM_000552.5(VWF):c.5235G>T (p.Trp1745Cys) rs267607352
NM_000552.5(VWF):c.5314delG
NM_000552.5(VWF):c.5380A>G (p.Lys1794Glu) rs267607355
NM_000552.5(VWF):c.5458del (p.Arg1819_Val1820insTer) rs2136405765
NM_000552.5(VWF):c.5621-47_5842+51del rs1591857613
NM_000552.5(VWF):c.5621-50_5842+50del rs2136403361
NM_000552.5(VWF):c.5793G>C (p.Gln1931His) rs574811308
NM_000552.5(VWF):c.5981_5982insT (p.Gly1996fs) rs2136387598
NM_000552.5(VWF):c.6182del (p.Phe2061fs) rs61750614
NM_000552.5(VWF):c.6188del (p.Pro2063fs) rs774210583
NM_000552.5(VWF):c.6211C>T (p.Gln2071Ter)
NM_000552.5(VWF):c.6236C>G (p.Ser2079Ter) rs2136385927
NM_000552.5(VWF):c.646G>T (p.Glu216Ter) rs767837153
NM_000552.5(VWF):c.652C>T (p.Gln218Ter) rs62643623
NM_000552.5(VWF):c.6535T>C (p.Ser2179Pro) rs2136385329
NM_000552.5(VWF):c.6539dup (p.Tyr2180Ter)
NM_000552.5(VWF):c.6599-5_6610del
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.666G>A (p.Trp222Ter) rs62643624
NM_000552.5(VWF):c.6697G>T (p.Glu2233Ter)
NM_000552.5(VWF):c.6743G>A (p.Cys2248Tyr) rs2136382972
NM_000552.5(VWF):c.6798+2T>A
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6963del (p.Glu2322fs) rs2136375523
NM_000552.5(VWF):c.7080C>A (p.Cys2360Ter) rs111597150
NM_000552.5(VWF):c.7085G>T (p.Cys2362Phe) rs61750630
NM_000552.5(VWF):c.7130dup (p.His2378fs) rs267607359
NM_000552.5(VWF):c.7254_7255del (p.Cys2418fs) rs1591841452
NM_000552.5(VWF):c.7360_7376del (p.Thr2454fs) rs1591838814
NM_000552.5(VWF):c.7360_7376dup (p.Val2460fs) rs1591838814
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7514C>A (p.Ser2505Ter) rs2136358550
NM_000552.5(VWF):c.7524_7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7563G>A (p.Trp2521Ter)
NM_000552.5(VWF):c.7618del (p.Val2540fs) rs2136356178
NM_000552.5(VWF):c.7630C>T (p.Gln2544Ter) rs61751297
NM_000552.5(VWF):c.763_766del (p.Cys255fs) rs2136474390
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7674dup (p.Ser2559fs) rs267607365
NM_000552.5(VWF):c.7729+7C>T rs61751301
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.7880del (p.Cys2627fs)
NM_000552.5(VWF):c.7886del (p.Leu2629fs)
NM_000552.5(VWF):c.8116-2del rs2136338765
NM_000552.5(VWF):c.8317T>C (p.Cys2773Arg) rs61751310
NM_000552.5(VWF):c.8318G>C (p.Cys2773Ser) rs61751311
Single allele

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