ClinVar Miner

List of variants in gene VWF reported as likely pathogenic

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Total variants: 222
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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.5191T>A (p.Ser1731Thr) rs61750603 0.00101
NM_000552.5(VWF):c.1922C>T (p.Ala641Val) rs61754019 0.00098
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_000552.5(VWF):c.1625C>G (p.Ala542Gly) rs141649383 0.00074
NM_000552.5(VWF):c.5851A>G (p.Thr1951Ala) rs144072210 0.00056
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.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000552.5(VWF):c.7393G>A (p.Val2465Met) rs375655409 0.00010
NM_000552.5(VWF):c.658-3C>A rs377196768 0.00007
NM_000552.5(VWF):c.5801T>G (p.Val1934Gly) rs139845585 0.00006
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_000552.5(VWF):c.7450G>A (p.Val2484Ile) rs139864572 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.7493C>A (p.Ala2498Asp) rs369669154 0.00004
NM_000552.5(VWF):c.7732C>T (p.Arg2578Cys) rs369970893 0.00004
NM_000552.5(VWF):c.7987C>T (p.Arg2663Cys) rs370662678 0.00004
NM_000552.5(VWF):c.2447G>A (p.Arg816Gln) rs62643634 0.00003
NM_000552.5(VWF):c.4580G>A (p.Arg1527Gln) rs780538558 0.00003
NM_000552.5(VWF):c.6553C>T (p.Arg2185Trp) rs569962285 0.00003
NM_000552.5(VWF):c.993C>A (p.Cys331Ter) rs147924974 0.00003
NM_000552.5(VWF):c.2967+2T>C rs773737583 0.00002
NM_000552.5(VWF):c.3159G>T (p.Gln1053His) rs61748496 0.00002
NM_000552.5(VWF):c.4378C>T (p.Leu1460Phe) rs61750088 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.100C>T (p.Arg34Ter) rs61753984 0.00001
NM_000552.5(VWF):c.1534-3C>A rs61754009 0.00001
NM_000552.5(VWF):c.2269_2270del (p.Leu757fs) rs61748465 0.00001
NM_000552.5(VWF):c.2278C>T (p.Arg760Cys) rs61748466 0.00001
NM_000552.5(VWF):c.2303G>A (p.Arg768Gln) rs772203447 0.00001
NM_000552.5(VWF):c.2372C>T (p.Thr791Met) rs61748477 0.00001
NM_000552.5(VWF):c.2560C>T (p.Arg854Trp) rs61748482 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 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.3944G>A (p.Arg1315His) rs61749396 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.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.4384C>G (p.Pro1462Ala) rs61750090 0.00001
NM_000552.5(VWF):c.4690C>T (p.Arg1564Trp) rs370854023 0.00001
NM_000552.5(VWF):c.55G>A (p.Gly19Arg) rs61753983 0.00001
NM_000552.5(VWF):c.6634T>C (p.Cys2212Arg) rs1943750562 0.00001
NM_000552.5(VWF):c.7056C>T (p.Gly2352=) rs746482504 0.00001
NM_000552.5(VWF):c.7408C>T (p.Gln2470Ter) rs61751288 0.00001
NM_000552.5(VWF):c.8216G>A (p.Cys2739Tyr) rs61751305 0.00001
NM_000552.5(VWF):c.970C>T (p.Arg324Ter) rs61754000 0.00001
NC_000012.11:g.(6105389_6120782)_(6233842_?)del
NM_000552.5(VWF):c.1051del (p.Val351fs) rs2136470584
NM_000552.5(VWF):c.1156+1G>A
NM_000552.5(VWF):c.115G>A (p.Gly39Arg)
NM_000552.5(VWF):c.1179dup (p.Ser394fs)
NM_000552.5(VWF):c.1231C>T (p.Gln411Ter)
NM_000552.5(VWF):c.1293+2T>C rs1591895879
NM_000552.5(VWF):c.1339del (p.Arg447fs) rs1591895308
NM_000552.5(VWF):c.1583A>G (p.Asn528Ser) rs61754010
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.168C>A (p.Tyr56Ter)
NM_000552.5(VWF):c.1708T>C (p.Cys570Arg) rs2136455744
NM_000552.5(VWF):c.1931_1945+5del rs2136454053
NM_000552.5(VWF):c.1955G>T (p.Cys652Phe) rs1438247325
NM_000552.5(VWF):c.1974C>G (p.Tyr658Ter) rs761288966
NM_000552.5(VWF):c.2060G>A (p.Cys687Tyr) rs1591886521
NM_000552.5(VWF):c.2157del (p.Asp720fs) rs62643628
NM_000552.5(VWF):c.221-1680_533-7312del
NM_000552.5(VWF):c.221-6_532+30del rs1591924208
NM_000552.5(VWF):c.221-977_532+7060del
NM_000552.5(VWF):c.2311A>G (p.Met771Val) rs1212894308
NM_000552.5(VWF):c.2376C>G (p.Cys792Trp) rs2136440319
NM_000552.5(VWF):c.2443-1G>C rs61748480
NM_000552.5(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.5(VWF):c.2546+3G>C rs1565838728
NM_000552.5(VWF):c.2546G>A (p.Cys849Tyr) rs772796741
NM_000552.5(VWF):c.2646dup (p.Tyr883fs)
NM_000552.5(VWF):c.2649_2650insTTTG (p.Leu884fs) rs1591874316
NM_000552.5(VWF):c.2936G>A (p.Ser979Asn) rs267607312
NM_000552.5(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.5(VWF):c.3232G>A (p.Glu1078Lys) rs267607316
NM_000552.5(VWF):c.3314C>A (p.Ala1105Asp) rs1591866220
NM_000552.5(VWF):c.3358_3359insC (p.Trp1120fs) rs2136418339
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3389G>A (p.Cys1130Tyr) rs267607324
NM_000552.5(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.5(VWF):c.3515G>T (p.Gly1172Val) rs1555195293
NM_000552.5(VWF):c.3538+1G>C
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.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)
NM_000552.5(VWF):c.3614G>T (p.Arg1205Leu) rs121964895
NM_000552.5(VWF):c.3675-1G>A rs746457842
NM_000552.5(VWF):c.3679T>C (p.Cys1227Arg) rs61749366
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
NM_000552.5(VWF):c.3735dup (p.Pro1246fs) rs2136413939
NM_000552.5(VWF):c.374_387del (p.Gly125fs) rs63749066
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.3805_3806insT (p.Asp1269fs) rs2136413792
NM_000552.5(VWF):c.3831_3833del (p.Asp1277_Leu1278delinsGlu) rs61749375
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs) rs61749377
NM_000552.5(VWF):c.3842T>C (p.Leu1281Pro) rs1591863438
NM_000552.5(VWF):c.3845T>C (p.Leu1282Pro) rs61749378
NM_000552.5(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.5(VWF):c.3916C>T (p.Arg1306Trp) rs61749384
NM_000552.5(VWF):c.3917G>C (p.Arg1306Pro) rs61749385
NM_000552.5(VWF):c.3923G>T (p.Arg1308Leu) rs61749388
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn) rs2136413547
NM_000552.5(VWF):c.3928T>C (p.Ser1310Pro) rs2136413535
NM_000552.5(VWF):c.3940G>T (p.Val1314Phe) rs61749393
NM_000552.5(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.5(VWF):c.3946G>A (p.Val1316Met) rs61749397
NM_000552.5(VWF):c.3962A>G (p.Tyr1321Cys) rs1591863294
NM_000552.5(VWF):c.3974C>T (p.Ser1325Phe)
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
NM_000552.5(VWF):c.4022G>C (p.Arg1341Pro) rs61749403
NM_000552.5(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.5(VWF):c.4105T>C (p.Phe1369Leu) rs61750069
NM_000552.5(VWF):c.4121G>T (p.Arg1374Leu) rs61750072
NM_000552.5(VWF):c.4160G>T (p.Ser1387Ile) rs1565832072
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>A (p.Ile1416Asn) rs61750081
NM_000552.5(VWF):c.4247T>C (p.Ile1416Thr) rs61750081
NM_000552.5(VWF):c.4249G>T (p.Gly1417Trp) rs2136412846
NM_000552.5(VWF):c.4263C>A (p.Asn1421Lys) rs61750082
NM_000552.5(VWF):c.4273A>T (p.Ile1425Phe) rs61750083
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser) rs555366738
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.4414del (p.Asp1472fs) rs2136412581
NM_000552.5(VWF):c.4470del (p.Lys1491fs) rs2136412494
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4508T>A (p.Leu1503Gln) rs61750097
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4551C>G (p.Ser1517Arg) rs2136412350
NM_000552.5(VWF):c.4571T>G (p.Val1524Gly) rs2136412301
NM_000552.5(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.5(VWF):c.4625A>G (p.Tyr1542Cys) rs2136412168
NM_000552.5(VWF):c.4636del (p.Met1545_Val1546insTer) rs267607345
NM_000552.5(VWF):c.4637T>G (p.Val1546Gly) rs1591862366
NM_000552.5(VWF):c.4645G>A (p.Glu1549Lys) rs267607347
NM_000552.5(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer) rs1591862342
NM_000552.5(VWF):c.4667A>G (p.Gln1556Arg) rs61750110
NM_000552.5(VWF):c.4717G>A (p.Gly1573Ser) rs267607349
NM_000552.5(VWF):c.4789C>T (p.Arg1597Trp) rs61750117
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.4850_4867del (p.Lys1617_Asp1622del) rs2136411706
NM_000552.5(VWF):c.4885G>C (p.Gly1629Arg) rs61750585
NM_000552.5(VWF):c.4892G>A (p.Gly1631Asp) rs2136411659
NM_000552.5(VWF):c.4931G>A (p.Trp1644Ter) rs1591862022
NM_000552.5(VWF):c.4970T>C (p.Leu1657Pro) rs61750593
NM_000552.5(VWF):c.4994T>A (p.Val1665Glu) rs61750596
NM_000552.5(VWF):c.5085_5087del (p.Leu1696del) rs2136409523
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5096C>T (p.Ser1699Phe) rs2136409487
NM_000552.5(VWF):c.50dup (p.Leu17fs) rs751286556
NM_000552.5(VWF):c.5146G>C (p.Ala1716Pro) rs1194776238
NM_000552.5(VWF):c.5170+1G>A rs764543553
NM_000552.5(VWF):c.5281dup (p.Met1761fs)
NM_000552.5(VWF):c.5293G>T (p.Gly1765Ter) rs1268910016
NM_000552.5(VWF):c.5312-2_5312-1del
NM_000552.5(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.5(VWF):c.533-2A>G rs267607301
NM_000552.5(VWF):c.533-48_657+52del rs1591914708
NM_000552.5(VWF):c.5471C>G (p.Pro1824Arg) rs61750610
NM_000552.5(VWF):c.5520dup (p.Gly1841fs) rs1591858979
NM_000552.5(VWF):c.573G>C (p.Trp191Cys)
NM_000552.5(VWF):c.592C>T (p.Gln198Ter) rs2136500386
NM_000552.5(VWF):c.6227del (p.Thr2076fs) rs2136385937
NM_000552.5(VWF):c.6334C>T (p.Gln2112Ter)
NM_000552.5(VWF):c.6488G>A (p.Cys2163Tyr) rs1591848387
NM_000552.5(VWF):c.6536C>T (p.Ser2179Phe) rs61750620
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6551G>C (p.Cys2184Ser) rs2136385288
NM_000552.5(VWF):c.6578G>A (p.Trp2193Ter)
NM_000552.5(VWF):c.6798+1G>T rs61750624
NM_000552.5(VWF):c.6847T>C (p.Cys2283Arg) rs2136376158
NM_000552.5(VWF):c.6854del (p.Ser2285fs)
NM_000552.5(VWF):c.6911G>A (p.Cys2304Tyr) rs61750626
NM_000552.5(VWF):c.6917del (p.Leu2306fs) rs2136375588
NM_000552.5(VWF):c.6973T>A (p.Cys2325Ser) rs1256082707
NM_000552.5(VWF):c.7057G>A (p.Glu2353Lys)
NM_000552.5(VWF):c.7081+1G>A
NM_000552.5(VWF):c.7082-2A>G rs267607358
NM_000552.5(VWF):c.7090A>T (p.Lys2364Ter)
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7159C>T (p.Gln2387Ter)
NM_000552.5(VWF):c.7292G>A (p.Cys2431Tyr) rs1591838900
NM_000552.5(VWF):c.7352G>A (p.Cys2451Tyr) rs1591838833
NM_000552.5(VWF):c.7399C>T (p.Gln2467Ter) rs1591838792
NM_000552.5(VWF):c.7464C>T (p.Gly2488=) rs900907976
NM_000552.5(VWF):c.7483del (p.Leu2495fs) rs1229452874
NM_000552.5(VWF):c.7525del (p.Asp2509fs) rs1591836930
NM_000552.5(VWF):c.7580C>A (p.Pro2527His) rs1943442849
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7660del (p.Val2554fs)
NM_000552.5(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.5(VWF):c.7730-1G>C rs267607366
NM_000552.5(VWF):c.7730-1G>T rs267607366
NM_000552.5(VWF):c.7730-2del
NM_000552.5(VWF):c.7770+1G>T rs200770256
NM_000552.5(VWF):c.7863del (p.Thr2622fs) rs1591834850
NM_000552.5(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8012G>A (p.Cys2671Tyr) rs61751303
NM_000552.5(VWF):c.8027G>T (p.Cys2676Phe)
NM_000552.5(VWF):c.8069_8070insA (p.Thr2691fs) rs2136339259
NM_000552.5(VWF):c.8155+1G>T rs1943194455
NM_000552.5(VWF):c.8155+2_8155+3del rs2136338728
NM_000552.5(VWF):c.8155+3G>C rs61751304
NM_000552.5(VWF):c.8155+6T>C rs1223422347
NM_000552.5(VWF):c.8165del (p.Pro2722fs)
NM_000552.5(VWF):c.823T>A (p.Cys275Ser) rs61753998
NM_000552.5(VWF):c.823T>C (p.Cys275Arg) rs61753998
NM_000552.5(VWF):c.8244_8252del (p.His2748_Cys2750del) rs267607368
NM_000552.5(VWF):c.949del (p.Ile317fs) rs2136472072

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