ClinVar Miner

List of variants studied for coagulation protein disease by ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
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HGVS dbSNP gnomAD frequency
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_000552.5(VWF):c.6554G>A (p.Arg2185Gln) rs2229446 0.06069
NM_000552.5(VWF):c.2451T>A (p.His817Gln) rs57950734 0.03591
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025 0.01762
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_000552.5(VWF):c.3686T>G (p.Val1229Gly) rs61749367 0.00656
NM_000361.3(THBD):c.1504G>C (p.Gly502Arg) rs76135678 0.00655
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_000552.5(VWF):c.7940C>T (p.Thr2647Met) rs61751302 0.00352
NM_000504.4(F10):c.424G>A (p.Glu142Lys) rs61753266 0.00347
NM_021870.3(FGG):c.571G>A (p.Gly191Arg) rs6063 0.00339
NM_000301.5(PLG):c.112A>G (p.Lys38Glu) rs73015965 0.00282
NM_000552.5(VWF):c.4457C>T (p.Ser1486Leu) rs149424724 0.00282
NM_005141.5(FGB):c.794C>T (p.Pro265Leu) rs6054 0.00275
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser) rs138754417 0.00237
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_021870.3(FGG):c.323C>G (p.Ala108Gly) rs148685782 0.00222
NM_000361.3(THBD):c.1502C>T (p.Pro501Leu) rs1800579 0.00193
NM_019616.4(F7):c.64+4C>T rs187128791 0.00178
NM_000130.5(F5):c.5054C>G (p.Thr1685Ser) rs6011 0.00144
NM_000130.5(F5):c.5245C>G (p.Leu1749Val) rs6034 0.00144
NM_000506.3(F2):c.598G>A (p.Glu200Lys) rs62623459 0.00138
NM_000552.5(VWF):c.546G>A (p.Ser182=) rs143054357 0.00125
NM_019616.4(F7):c.1025G>A (p.Arg342Gln) rs121964926 0.00118
NM_000130.5(F5):c.5265A>G (p.Ile1755Met) rs41272455 0.00113
NM_000133.4(F9):c.19A>T (p.Ile7Phe) rs150190385 0.00086
NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) rs141977229 0.00075
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser) rs1800578 0.00057
NM_000552.5(VWF):c.8036A>G (p.Asn2679Ser) rs151129435 0.00057
NM_019616.4(F7):c.142C>T (p.Pro48Ser) rs373376565 0.00050
NM_000552.5(VWF):c.3835G>A (p.Val1279Ile) rs61749376 0.00048
NM_000552.5(VWF):c.8084C>G (p.Pro2695Arg) rs76459136 0.00038
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_000504.4(F10):c.947A>G (p.Lys316Arg) rs144679674 0.00030
NM_000504.4(F10):c.747+8T>C rs200618182 0.00016
NM_000552.5(VWF):c.1781C>G (p.Ala594Gly) rs267607308 0.00016
NM_000552.5(VWF):c.706C>T (p.Arg236Cys) rs140912382 0.00014
NM_000504.4(F10):c.1351A>C (p.Ile451Leu) rs369872236 0.00011
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys) rs61750077 0.00010
NM_000361.3(THBD):c.1523C>T (p.Pro508Leu) rs201936427 0.00008
NM_019616.4(F7):c.1085C>T (p.Thr362Met) rs531225271 0.00008
NM_019616.4(F7):c.413A>G (p.Gln138Arg) rs200016360 0.00008
NM_000132.4(F8):c.1094A>G (p.Tyr365Cys) rs375241473 0.00007
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000552.5(VWF):c.4975C>T (p.Arg1659Ter) rs61750595 0.00006
NM_019616.4(F7):c.845C>T (p.Ala282Val) rs121964931 0.00006
NM_019616.4(F7):c.911G>A (p.Arg304Gln) rs146698837 0.00006
NM_000504.4(F10):c.1097G>A (p.Arg366His) rs143715673 0.00005
NM_000552.5(VWF):c.4021C>T (p.Arg1341Trp) rs61749402 0.00005
NM_019616.4(F7):c.868G>A (p.Val290Met) rs201991361 0.00005
NM_021870.3(FGG):c.709T>C (p.Tyr237His) rs762488338 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000173.7(GP1BA):c.380G>A (p.Arg127Gln) rs749454966 0.00004
NM_000552.5(VWF):c.2878C>T (p.Arg960Trp) rs370984712 0.00004
NM_000552.5(VWF):c.2927G>A (p.Arg976His) rs181452677 0.00004
NM_000552.5(VWF):c.3907A>G (p.Met1303Val) rs1029751209 0.00004
NM_021870.3(FGG):c.1099G>A (p.Ala367Thr) rs78257946 0.00004
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000132.4(F8):c.248C>G (p.Pro83Arg) rs781974394 0.00003
NM_005141.5(FGB):c.139C>T (p.Arg47Ter) rs121909625 0.00003
NM_019616.4(F7):c.-27C>T rs886049985 0.00003
NM_000130.5(F5):c.911G>A (p.Gly304Glu) rs865947251 0.00002
NM_000552.5(VWF):c.7887+2T>A rs113814258 0.00002
NM_000552.5(VWF):c.8276T>C (p.Met2759Thr) rs776681874 0.00002
NM_019616.4(F7):c.400G>A (p.Gly134Ser) rs563972504 0.00002
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1199C>T (p.Pro400Leu) rs533335580 0.00001
NM_000128.4(F11):c.1207G>A (p.Val403Met) rs281875266 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1481-9T>A rs372283197 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.616C>T (p.Pro206Ser) rs779123395 0.00001
NM_000130.5(F5):c.2321G>C (p.Gly774Ala) rs547915978 0.00001
NM_000130.5(F5):c.5408A>G (p.His1803Arg) rs754104059 0.00001
NM_000130.5(F5):c.6179G>A (p.Gly2060Asp) rs1384690038 0.00001
NM_000130.5(F5):c.6644G>A (p.Arg2215His) rs952196842 0.00001
NM_000132.4(F8):c.1834C>T (p.Arg612Cys) rs137852428 0.00001
NM_000132.4(F8):c.6533G>A (p.Arg2178His) rs137852465 0.00001
NM_000133.4(F9):c.571C>T (p.Arg191Cys) rs137852237 0.00001
NM_000301.5(PLG):c.86A>C (p.Gln29Pro) rs1051644668 0.00001
NM_000552.5(VWF):c.3108+5G>A rs61748495 0.00001
NM_000552.5(VWF):c.4135C>T (p.Arg1379Cys) rs61750074 0.00001
NM_000552.5(VWF):c.4277G>A (p.Arg1426His) rs761308466 0.00001
NM_000552.5(VWF):c.4309G>A (p.Ala1437Thr) rs61750084 0.00001
NM_000552.5(VWF):c.6311C>T (p.Thr2104Ile) rs61750616 0.00001
NM_000552.5(VWF):c.7437G>A (p.Ser2479=) rs267607363 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
NM_005141.5(FGB):c.656A>G (p.Gln219Arg) rs778766319 0.00001
NM_019616.4(F7):c.1043G>T (p.Cys348Phe) rs121964927 0.00001
NM_019616.4(F7):c.217G>A (p.Glu73Lys) rs550453328 0.00001
NM_019616.4(F7):c.505+78G>A rs764741909 0.00001
NM_019616.4(F7):c.517T>C (p.Cys173Arg) rs372577568 0.00001
NM_021870.2(FGG):c.902G>A (p.Arg301His) rs121913088 0.00001
NC_000002.12:g.5853982_6200592del
NC_000013.11:g.109179481_114327244del
NM_000128.3(F11):c.-153T>G rs2126696047
NM_000128.4(F11):c.1049T>C (p.Leu350Pro) rs2126759475
NM_000128.4(F11):c.1138T>C (p.Cys380Arg)
NM_000128.4(F11):c.1305-2A>G
NM_000128.4(F11):c.1388T>A (p.Val463Asp)
NM_000128.4(F11):c.1633T>C (p.Cys545Arg)
NM_000128.4(F11):c.1852A>G (p.Ile618Val) rs2126791743
NM_000128.4(F11):c.325+1G>T
NM_000128.4(F11):c.55+6T>G rs1739571881
NM_000128.4(F11):c.560G>T (p.Gly187Val) rs1740324523
NM_000128.4(F11):c.719C>T (p.Thr240Ile)
NM_000128.4(F11):c.791T>G (p.Leu264Trp)
NM_000128.4(F11):c.89T>C (p.Phe30Ser)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.973G>T (p.Val325Phe) rs764711007
NM_000129.4(F13A1):c.1112+1G>A
NM_000129.4(F13A1):c.2150A>G (p.His717Arg)
NM_000129.4(F13A1):c.235A>T (p.Arg79Ter)
NM_000129.4(F13A1):c.723T>G (p.Tyr241Ter)
NM_000130.5(F5):c.1321C>G (p.Arg441Gly) rs747006175
NM_000130.5(F5):c.1777G>T (p.Val593Leu)
NM_000130.5(F5):c.2401C>T (p.Gln801Ter) rs118203908
NM_000130.5(F5):c.244A>G (p.Ile82Val)
NM_000130.5(F5):c.5403del (p.Lys1801fs)
NM_000130.5(F5):c.6025G>T (p.Gly2009Trp)
NM_000130.5(F5):c.6122T>G (p.Ile2041Ser) rs1364834534
NM_000130.5(F5):c.696C>A (p.Tyr232Ter)
NM_000130.5(F5):c.986G>A (p.Cys329Tyr) rs574459300
NM_000132.4(F8):c.1538-18G>A rs1482306571
NM_000132.4(F8):c.1601T>C (p.Val534Ala) rs1557281261
NM_000132.4(F8):c.1835G>T (p.Arg612Leu) rs782473762
NM_000132.4(F8):c.1894del (p.Ile632fs) rs1603434698
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.1930T>G (p.Leu644Val) rs2124082414
NM_000132.4(F8):c.2150G>T (p.Arg717Leu) rs942909873
NM_000132.4(F8):c.2T>A (p.Met1Lys)
NM_000132.4(F8):c.308T>C (p.Val103Ala) rs2073621465
NM_000132.4(F8):c.460A>G (p.Thr154Ala) rs1603436436
NM_000132.4(F8):c.509C>T (p.Pro170Leu) rs2124140933
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.5506T>C (p.Trp1836Arg) rs2073029867
NM_000132.4(F8):c.5883G>A (p.Trp1961Ter)
NM_000132.4(F8):c.6047G>A (p.Arg2016Gln) rs1444225681
NM_000132.4(F8):c.6104T>C (p.Val2035Ala) rs1603432906
NM_000132.4(F8):c.6533G>T (p.Arg2178Leu) rs137852465
NM_000132.4(F8):c.6617A>G (p.Asp2206Gly) rs2072694107
NM_000132.4(F8):c.6968G>C (p.Arg2323Pro) rs137852474
NM_000132.4(F8):c.897_898insAAGGCGTCGC (p.His300fs)
NM_000132.4(F8):c.901C>T (p.Arg301Cys) rs1401805753
NM_000133.4(F9):c.1009G>C (p.Ala337Pro) rs137852253
NM_000133.4(F9):c.271T>A (p.Tyr91Asn) rs1927507602
NM_000133.4(F9):c.284A>T (p.Asp95Val) rs1927589695
NM_000133.4(F9):c.314G>A (p.Gly105Asp) rs1927590546
NM_000133.4(F9):c.365G>T (p.Gly122Val) rs1927592770
NM_000133.4(F9):c.391+5_391+8del rs1927593812
NM_000133.4(F9):c.520+13A>G rs1603265507
NM_000133.4(F9):c.835G>A (p.Ala279Thr) rs137852247
NM_000173.7(GP1BA):c.1326_1334del (p.Glu442_Pro445delinsAsp) rs2151108403
NM_000173.7(GP1BA):c.737G>T (p.Trp246Leu) rs2151107964
NM_000173.7(GP1BA):c.746G>A (p.Gly249Asp) rs121908062
NM_000173.7(GP1BA):c.746G>T (p.Gly249Val) rs121908062
NM_000173.7(GP1BA):c.763A>G (p.Met255Val) rs121908064
NM_000173.7(GP1BA):c.793G>T (p.Asp265Tyr) rs765474118
NM_000361.3(THBD):c.1351T>A (p.Cys451Ser) rs776495714
NM_000361.3(THBD):c.844G>C (p.Ala282Pro)
NM_000504.4(F10):c.1036C>T (p.Arg346Cys)
NM_000504.4(F10):c.119G>C (p.Arg40Thr)
NM_000504.4(F10):c.1252G>C (p.Asp418His) rs2138557799
NM_000504.4(F10):c.1348G>A (p.Gly450Arg) rs1595099844
NM_000504.4(F10):c.162_163del (p.Glu56fs) rs749213415
NM_000504.4(F10):c.205G>A (p.Glu69Lys) rs1325135019
NM_000504.4(F10):c.212T>C (p.Phe71Ser)
NM_000504.4(F10):c.231G>C (p.Thr77=) rs201932014
NM_000504.4(F10):c.232-2563_503-451del
NM_000504.4(F10):c.837C>A (p.Tyr279Ter) rs1250509122
NM_000505.4(F12):c.1079G>T (p.Gly360Val)
NM_000505.4(F12):c.1517del (p.Gly506fs)
NM_000505.4(F12):c.586C>T (p.Arg196Cys)
NM_000506.5(F2):c.1094T>A (p.Val365Glu) rs747234596
NM_000552.5(VWF):c.1-10T>A
NM_000552.5(VWF):c.1219A>C (p.Ser407Arg) rs2136463035
NM_000552.5(VWF):c.1311C>A (p.Asp437Glu)
NM_000552.5(VWF):c.1339C>T (p.Arg447Trp)
NM_000552.5(VWF):c.1533+1G>A rs1555198839
NM_000552.5(VWF):c.1594G>C (p.Gly532Arg)
NM_000552.5(VWF):c.1607T>C (p.Leu536Pro) rs1591890769
NM_000552.5(VWF):c.2291G>A (p.Ser764Asn)
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000552.5(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.5(VWF):c.3530G>A (p.Cys1177Tyr)
NM_000552.5(VWF):c.3569G>A (p.Cys1190Tyr) rs1591865026
NM_000552.5(VWF):c.3569G>T (p.Cys1190Phe)
NM_000552.5(VWF):c.3692A>C (p.Asn1231Thr) rs61749368
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser) rs61749368
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.3842T>C (p.Leu1281Pro) rs1591863438
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.3922C>T (p.Arg1308Cys) rs61749387
NM_000552.5(VWF):c.3926T>A (p.Ile1309Asn) rs2136413547
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.3946G>T (p.Val1316Leu)
NM_000552.5(VWF):c.4010C>T (p.Pro1337Leu) rs61749400
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.421G>A (p.Asp141Asn) rs61753992
NM_000552.5(VWF):c.4276C>A (p.Arg1426Ser) rs555366738
NM_000552.5(VWF):c.4342C>T (p.Gln1448Ter)
NM_000552.5(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.5(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.5(VWF):c.4883T>C (p.Ile1628Thr) rs61750584
NM_000552.5(VWF):c.4891G>A (p.Gly1631Ser)
NM_000552.5(VWF):c.5087T>G (p.Leu1696Arg) rs2136409514
NM_000552.5(VWF):c.5198T>C (p.Leu1733Pro)
NM_000552.5(VWF):c.5222T>C (p.Ile1741Thr)
NM_000552.5(VWF):c.5621-50_5842+50del rs2136403361
NM_000552.5(VWF):c.5746C>G (p.Arg1916Gly)
NM_000552.5(VWF):c.5866C>T (p.Arg1956Trp) rs751433166
NM_000552.5(VWF):c.6551G>A (p.Cys2184Tyr) rs2136385288
NM_000552.5(VWF):c.6634dup (p.Cys2212fs) rs1268159078
NM_000552.5(VWF):c.6768G>C (p.Gln2256His)
NM_000552.5(VWF):c.7122_7123insAGCCCCCCCCCCCCGT (p.Cys2375fs)
NM_000552.5(VWF):c.7287+12T>G
NM_000552.5(VWF):c.7599T>G (p.Cys2533Trp) rs61751295
NM_000552.5(VWF):c.7650_7651del (p.Gln2551fs)
NM_000552.5(VWF):c.7729+5G>A
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro) rs149834874
NM_000552.5(VWF):c.8008G>A (p.Gly2670Ser)
NM_000552.5(VWF):c.8155+2_8155+3del rs2136338728
NM_000552.5(VWF):c.8430_8433dup (p.Ser2812fs) rs2136336103
NM_000602.5(SERPINE1):c.79C>A (p.Pro27Thr) rs1163437425
NM_001994.3(F13B):c.1079T>A (p.Val360Glu) rs2125068039
NM_005141.5(FGB):c.1330G>A (p.Gly444Ser)
NM_005141.5(FGB):c.419C>A (p.Thr140Asn)
NM_005141.5(FGB):c.506T>A (p.Val169Asp) rs2110768107
NM_005141.5(FGB):c.946T>C (p.Cys316Arg)
NM_019616.4(F7):c.1206G>A (p.Trp402Ter)
NM_019616.4(F7):c.1247C>T (p.Thr416Ile) rs2142234668
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_019616.4(F7):c.145G>C (p.Gly49Arg) rs376384665
NM_019616.4(F7):c.149C>G (p.Ser50Cys) rs546856641
NM_019616.4(F7):c.154dup (p.Glu52fs)
NM_019616.4(F7):c.169G>C (p.Glu57Gln)
NM_019616.4(F7):c.175C>T (p.Gln59Ter)
NM_019616.4(F7):c.196C>G (p.Arg66Gly)
NM_019616.4(F7):c.213C>G (p.Asp71Glu) rs761662200
NM_019616.4(F7):c.483C>A (p.Asp161Glu) rs6040
NM_019616.4(F7):c.64+937C>T
NM_019616.4(F7):c.649G>C (p.Gly217Arg) rs2142229154
NM_019616.4(F7):c.675G>T (p.Trp225Cys)
NM_019616.4(F7):c.739+3_739+6del rs754785708
NM_019616.4(F7):c.739+7_739+43del rs1309684522
NM_019616.4(F7):c.740-329G>A
NM_019616.4(F7):c.783_799del (p.Arg262fs) rs786205091
NM_019616.4(F7):c.893C>T (p.Pro298Leu)
NM_019616.4(F7):c.907G>A (p.Glu303Lys)
NM_021870.2(FGG):c.901C>T (p.Arg301Cys) rs121913087
NM_021870.3(FGG):c.1190C>T (p.Thr397Ile) rs1731071910
NM_021870.3(FGG):c.793C>T (p.Gln265Ter) rs771279321
NM_021871.4(FGA):c.103C>G (p.Arg35Gly) rs121909606
NM_021871.4(FGA):c.1055del (p.Pro352fs) rs1299596156
NM_021871.4(FGA):c.1486G>T (p.Asp496Tyr) rs2110809573
NM_021871.4(FGA):c.1754del (p.Ser585fs)
NM_021871.4(FGA):c.364+5G>A rs891744509
NM_021871.4(FGA):c.431_432del (p.Lys144fs) rs934668242
Single allele

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