ClinVar Miner

List of variants reported as likely pathogenic for coagulation protein disease

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 225
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HGVS dbSNP
NM_000128.3(F11):c.1028+1G>A rs1316806485
NM_000128.3(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1118T>C (p.Leu373Ser)
NM_000128.3(F11):c.1120T>C (p.Cys374Arg)
NM_000128.3(F11):c.1136-7_1136-4del rs1439195599
NM_000128.3(F11):c.1186C>T (p.Arg396Cys) rs771896253
NM_000128.3(F11):c.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1207G>A (p.Val403Met) rs281875266
NM_000128.3(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1305-1G>A rs1057517204
NM_000128.3(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.3(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.3(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.3(F11):c.1376_1379CTTT[1] (p.Phe460fs) rs1554083736
NM_000128.3(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.3(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.3(F11):c.1480+2T>C rs1554083758
NM_000128.3(F11):c.1481-1G>C rs1057516506
NM_000128.3(F11):c.1481-1G>T rs1057516506
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.3(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.3(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.3(F11):c.1724C>T (p.Ser575Leu) rs281875250
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
NM_000128.3(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.3(F11):c.218+1G>A rs1057516738
NM_000128.3(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.3(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.3(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.3(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.325G>A (p.Ala109Thr) rs768474112
NM_000128.3(F11):c.343del (p.Tyr115fs)
NM_000128.3(F11):c.359T>C (p.Met120Thr)
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.408C>A (p.Cys136Ter) rs143648758
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
NM_000128.3(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.3(F11):c.486-2A>G rs1057516695
NM_000128.3(F11):c.596-7_600del rs1057517116
NM_000128.3(F11):c.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.67C>T (p.Gln23Ter) rs768409400
NM_000128.3(F11):c.682C>T (p.Arg228Ter) rs752907087
NM_000128.3(F11):c.728C>T (p.Ser243Phe)
NM_000128.3(F11):c.730C>T (p.Gln244Ter) rs747702749
NM_000128.3(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.865+1G>C rs1349655563
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.3(F11):c.943G>A (p.Glu315Lys) rs281875257
NM_000128.3(F11):c.959_960TG[1] (p.Cys321fs) rs786204449
NM_000128.3(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.3(F11):c.976C>T (p.Arg326Cys) rs28934608
NM_000128.3(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.3(F11):c.990dup (p.Thr331fs) rs1554082938
NM_000129.3(F13A1):c.1352_1353del (p.His451fs) rs1561645895
NM_000129.3(F13A1):c.1777G>A (p.Gly593Ser)
NM_000129.3(F13A1):c.1804C>T (p.Gln602Ter)
NM_000129.3(F13A1):c.233G>T (p.Arg78Leu)
NM_000129.3(F13A1):c.888C>G (p.Ser296Arg)
NM_000130.4(F5):c.1297-2A>G
NM_000130.4(F5):c.1321C>T (p.Arg441Cys) rs747006175
NM_000130.4(F5):c.1498T>G (p.Cys500Gly)
NM_000130.4(F5):c.1671G>C (p.Trp557Cys)
NM_000130.4(F5):c.1674C>A
NM_000130.4(F5):c.1830_1831dup (p.His611fs)
NM_000130.4(F5):c.2218C>T (p.Arg740Ter) rs757953549
NM_000130.4(F5):c.2539del (p.Ile847fs)
NM_000130.4(F5):c.2862del (p.Ser955fs)
NM_000130.4(F5):c.3170_3174del (p.Asn1057fs)
NM_000130.4(F5):c.5408A>G (p.His1803Arg)
NM_000130.4(F5):c.6304C>T (p.Arg2102Cys) rs118203910
NM_000130.4(F5):c.911G>A (p.Gly304Glu)
NM_000131.4(F7):c.-30A>C
NM_000131.4(F7):c.-55C>T
NM_000131.4(F7):c.-61T>G
NM_000131.4(F7):c.1027G>A (p.Gly343Ser)
NM_000131.4(F7):c.1109G>T (p.Cys370Phe) rs121964927
NM_000131.4(F7):c.1114C>T (p.Gln372Ter)
NM_000131.4(F7):c.1285G>A (p.Ala429Thr) rs755377592
NM_000131.4(F7):c.1391del (p.Pro464fs)
NM_000131.4(F7):c.218T>A (p.Leu73Gln)
NM_000131.4(F7):c.430+1G>A
NM_000131.4(F7):c.509G>A (p.Arg170His)
NM_000131.4(F7):c.681+1G>T
NM_000131.4(F7):c.722C>A (p.Thr241Asn)
NM_000131.4(F7):c.805+3_805+6del rs754785708
NM_000131.4(F7):c.805+5G>A
NM_000131.4(F7):c.817_831del (p.Leu273_Asp277del)
NM_000131.4(F7):c.911C>T (p.Ala304Val)
NM_000132.3(F8):c.1034T>C (p.Val345Ala)
NM_000132.3(F8):c.1073dup (p.Asn358fs)
NM_000132.3(F8):c.1093T>C (p.Tyr365His)
NM_000132.3(F8):c.143G>A (p.Arg48Lys)
NM_000132.3(F8):c.1654T>C (p.Tyr552His)
NM_000132.3(F8):c.1700T>C (p.Ile567Thr)
NM_000132.3(F8):c.1748A>G (p.Asn583Ser) rs782657516
NM_000132.3(F8):c.1894del (p.Ile632fs)
NM_000132.3(F8):c.1898T>G (p.Met633Arg)
NM_000132.3(F8):c.2099C>T (p.Ser700Leu)
NM_000132.3(F8):c.3144G>A (p.Trp1048Ter) rs1060499784
NM_000132.3(F8):c.3169G>A (p.Glu1057Lys) rs28933673
NM_000132.3(F8):c.3245_3246AT[1] (p.Met1083fs)
NM_000132.3(F8):c.3637del (p.Ile1213fs) rs387906450
NM_000132.3(F8):c.4313dup (p.Ser1439fs)
NM_000132.3(F8):c.460A>C (p.Thr154Pro)
NM_000132.3(F8):c.4767_4768insATAACCAA (p.Tyr1590fs) rs886039906
NM_000132.3(F8):c.5217C>T (p.Asn1739=)
NM_000132.3(F8):c.5219+2T>C
NM_000132.3(F8):c.5530C>T (p.Pro1844Ser) rs28933675
NM_000132.3(F8):c.558C>A (p.Asp186Glu)
NM_000132.3(F8):c.5896A>C (p.Met1966Leu)
NM_000132.3(F8):c.6437T>C (p.Phe2146Ser)
NM_000132.3(F8):c.6533G>A (p.Arg2178His) rs137852465
NM_000132.3(F8):c.6592G>A (p.Gly2198Arg)
NM_000132.3(F8):c.671-50_787+50del
NM_000132.3(F8):c.6776T>A (p.Val2259Asp)
NM_000132.3(F8):c.6920A>C (p.Asp2307Ala)
NM_000132.3(F8):c.733C>T (p.Arg245Trp)
NM_000132.3(F8):c.984T>G
NM_000133.3(F9):c.1025C>T (p.Thr342Met) rs137852254
NM_000133.3(F9):c.1069G>A (p.Gly357Arg) rs137852257
NM_000133.3(F9):c.1106T>C (p.Leu369Pro)
NM_000133.3(F9):c.1345C>T (p.Arg449Trp)
NM_000133.3(F9):c.141T>A (p.Tyr47Ter) rs1556435929
NM_000133.3(F9):c.148G>A (p.Gly50Ser) rs1556435940
NM_000133.3(F9):c.280G>A (p.Gly94Arg) rs1556437035
NM_000133.3(F9):c.519dup (p.Val174fs) rs1556006174
NM_000133.3(F9):c.756T>G (p.Cys252Trp) rs1556008316
NM_000133.3(F9):c.757G>A (p.Gly253Arg)
NM_000133.3(F9):c.802T>A (p.Cys268Ser)
NM_000133.3(F9):c.845A>G (p.His282Arg)
NM_000133.3(F9):c.88+1G>A
NM_000133.3(F9):c.88+5G>T
NM_000301.3(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_000504.4(F10):c.1087G>A (p.Gly363Ser)
NM_000504.4(F10):c.1210T>C (p.Cys404Arg)
NM_000504.4(F10):c.1348G>A (p.Gly450Arg)
NM_000504.4(F10):c.160G>A (p.Glu54Lys)
NM_000504.4(F10):c.161A>G (p.Glu54Gly)
NM_000504.4(F10):c.400G>A (p.Gly134Arg)
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000506.4(F2):c.260A>G (p.Tyr87Cys)
NM_000552.4(VWF):c.1293+2T>C
NM_000552.4(VWF):c.1339del (p.Arg447fs)
NM_000552.4(VWF):c.1607T>C (p.Leu536Pro)
NM_000552.4(VWF):c.1625C>G (p.Ala542Gly) rs141649383
NM_000552.4(VWF):c.1922C>T (p.Ala641Val) rs61754019
NM_000552.4(VWF):c.1974C>G (p.Tyr658Ter)
NM_000552.4(VWF):c.2060G>A (p.Cys687Tyr)
NM_000552.4(VWF):c.221-6_532+30del
NM_000552.4(VWF):c.2303G>A (p.Arg768Gln) rs772203447
NM_000552.4(VWF):c.2443-1G>C rs61748480
NM_000552.4(VWF):c.2516del (p.Gly839fs) rs61748481
NM_000552.4(VWF):c.2649_2650insTTTG (p.Leu884fs)
NM_000552.4(VWF):c.3179del (p.Cys1060fs) rs762105711
NM_000552.4(VWF):c.3359G>C (p.Trp1120Ser) rs267607321
NM_000552.4(VWF):c.3390C>T (p.Cys1130=)
NM_000552.4(VWF):c.3467C>T (p.Thr1156Met) rs267607328
NM_000552.4(VWF):c.3568T>C (p.Cys1190Arg) rs61749364
NM_000552.4(VWF):c.3569G>A (p.Cys1190Tyr)
NM_000552.4(VWF):c.3613C>T (p.Arg1205Cys) rs373787920
NM_000552.4(VWF):c.3675-1G>A
NM_000552.4(VWF):c.3797C>T (p.Pro1266Leu) rs61749370
NM_000552.4(VWF):c.3863T>G (p.Leu1288Arg) rs267607334
NM_000552.4(VWF):c.3943C>T (p.Arg1315Cys) rs61749395
NM_000552.4(VWF):c.3962A>G (p.Tyr1321Cys)
NM_000552.4(VWF):c.4082T>C (p.Leu1361Ser) rs61749408
NM_000552.4(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000552.4(VWF):c.4105T>C (p.Phe1369Leu)
NM_000552.4(VWF):c.4115T>G (p.Ile1372Ser) rs61750070
NM_000552.4(VWF):c.4195C>T (p.Arg1399Cys) rs61750077
NM_000552.4(VWF):c.421G>A (p.Asp141Asn) rs61753992
NM_000552.4(VWF):c.4247T>A (p.Ile1416Asn) rs61750081
NM_000552.4(VWF):c.449T>C (p.Leu150Pro) rs61753994
NM_000552.4(VWF):c.4517C>T (p.Ser1506Leu) rs61750100
NM_000552.4(VWF):c.4604_4612del (p.Ile1535_Val1537del) rs267607340
NM_000552.4(VWF):c.4637T>G (p.Val1546Gly)
NM_000552.4(VWF):c.4649_4651del (p.Tyr1550_Pro1551delinsSer)
NM_000552.4(VWF):c.4931G>A (p.Trp1644Ter)
NM_000552.4(VWF):c.5321T>C (p.Leu1774Ser) rs61750605
NM_000552.4(VWF):c.533-48_657+52del
NM_000552.4(VWF):c.5471C>G (p.Pro1824Arg)
NM_000552.4(VWF):c.5801T>G (p.Val1934Gly)
NM_000552.4(VWF):c.6488G>A (p.Cys2163Tyr)
NM_000552.4(VWF):c.658-3C>A
NM_000552.4(VWF):c.6798+1G>T rs61750624
NM_000552.4(VWF):c.7056C>T (p.Gly2352=) rs746482504
NM_000552.4(VWF):c.7352G>A (p.Cys2451Tyr)
NM_000552.4(VWF):c.7399C>T (p.Gln2467Ter)
NM_000552.4(VWF):c.7408C>T (p.Gln2470Ter) rs61751288
NM_000552.4(VWF):c.7450G>A (p.Val2484Ile)
NM_000552.4(VWF):c.7493C>A (p.Ala2498Asp)
NM_000552.4(VWF):c.7525del (p.Asp2509fs)
NM_000552.4(VWF):c.7664_7665insAG (p.Cys2557fs) rs267607364
NM_000552.4(VWF):c.7730-1G>T
NM_000552.4(VWF):c.7732C>T (p.Arg2578Cys)
NM_000552.4(VWF):c.7863del (p.Thr2622fs)
NM_000552.4(VWF):c.788_811del (p.Cys263_Glu270del) rs63749067
NM_000552.4(VWF):c.993C>A (p.Cys331Ter)
NM_000892.5(KLKB1):c.1259G>A (p.Gly420Glu) rs186254196
NM_001171506.2(MCFD2):c.149+5G>A rs387906286
NM_001171506.2(MCFD2):c.375_376GA[4] (p.Asp127fs)
NM_001313913.1(F9):c.610-5_617del
NM_005570.4(LMAN1):c.904A>T (p.Lys302Ter)
Single allele

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