ClinVar Miner

List of variants reported as likely pathogenic for Hereditary factor XI deficiency disease

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Total variants: 115
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000128.4(F11):c.1118T>C (p.Leu373Ser) rs375440170 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.400C>T (p.Gln134Ter) rs756908183 0.00004
NM_000128.4(F11):c.422C>T (p.Thr141Met) rs200593979 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1327C>T (p.Arg443Cys) rs369435407 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000128.4(F11):c.325G>A (p.Ala109Thr) rs768474112 0.00002
NM_000128.4(F11):c.682C>T (p.Arg228Ter) rs752907087 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1186C>T (p.Arg396Cys) rs771896253 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.1247G>A (p.Cys416Tyr) rs779802284 0.00001
NM_000128.4(F11):c.1253G>T (p.Gly418Val) rs121965071 0.00001
NM_000128.4(F11):c.1432G>A (p.Gly478Arg) rs542967227 0.00001
NM_000128.4(F11):c.1546G>A (p.Val516Met) rs200622588 0.00001
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.1608G>C (p.Lys536Asn) rs774280710 0.00001
NM_000128.4(F11):c.166T>C (p.Cys56Arg) rs121965069 0.00001
NM_000128.4(F11):c.1693G>A (p.Glu565Lys) rs281875275 0.00001
NM_000128.4(F11):c.1724C>T (p.Ser575Leu) rs281875250 0.00001
NM_000128.4(F11):c.1789G>A (p.Glu597Lys) rs281875251 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.359T>C (p.Met120Thr) rs767727775 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.599G>A (p.Cys200Tyr) rs757817254 0.00001
NM_000128.4(F11):c.616C>T (p.Pro206Ser) rs779123395 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.728C>T (p.Ser243Phe) rs1262002209 0.00001
NM_000128.4(F11):c.730C>T (p.Gln244Ter) rs747702749 0.00001
NM_000128.4(F11):c.755+2T>C rs1220869989 0.00001
NM_000128.4(F11):c.865+1G>C rs1349655563 0.00001
NM_000128.4(F11):c.965C>T (p.Thr322Ile) rs281875269 0.00001
NM_000128.4(F11):c.1028+1G>A rs1316806485
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.4(F11):c.1232_1235del (p.Thr411fs) rs1057517446
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1305-1G>A rs1057517204
NM_000128.4(F11):c.1305-2A>G
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724
NM_000128.4(F11):c.1329del (p.Val444fs) rs1554083727
NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)
NM_000128.4(F11):c.1351C>T (p.Gln451Ter)
NM_000128.4(F11):c.1362_1375del (p.Lys455fs) rs1554083734
NM_000128.4(F11):c.1365del (p.Glu456fs)
NM_000128.4(F11):c.1380_1383del (p.Phe460fs) rs1554083736
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1408del (p.Asp470fs)
NM_000128.4(F11):c.1472dup (p.Asn491fs) rs1554083753
NM_000128.4(F11):c.1478C>T (p.Thr493Ile) rs1554083754
NM_000128.4(F11):c.1480+2T>C rs1554083758
NM_000128.4(F11):c.1481-1G>C rs1057516506
NM_000128.4(F11):c.1481-1G>T rs1057516506
NM_000128.4(F11):c.152C>T (p.Thr51Ile) rs281875252
NM_000128.4(F11):c.155dup (p.Tyr52Ter) rs1554081886
NM_000128.4(F11):c.1560dup (p.Tyr521fs) rs1057516777
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.4(F11):c.16C>T (p.Gln6Ter) rs1554081288
NM_000128.4(F11):c.1724C>A (p.Ser575Ter) rs281875250
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
NM_000128.4(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.4(F11):c.1789G>T (p.Glu597Ter) rs281875251
NM_000128.4(F11):c.1831G>A (p.Val611Met)
NM_000128.4(F11):c.1837G>A (p.Glu613Lys)
NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)
NM_000128.4(F11):c.218+1G>A rs1057516738
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.219G>A (p.Trp73Ter) rs762013077
NM_000128.4(F11):c.228T>A (p.Cys76Ter)
NM_000128.4(F11):c.25_28del (p.His9fs) rs1057516616
NM_000128.4(F11):c.291del (p.Tyr98fs) rs1057517151
NM_000128.4(F11):c.2T>A (p.Met1Lys) rs1554081281
NM_000128.4(F11):c.325+1G>T
NM_000128.4(F11):c.343del (p.Tyr115fs) rs1580075457
NM_000128.4(F11):c.38_39del (p.Phe13fs)
NM_000128.4(F11):c.415A>T (p.Arg139Ter)
NM_000128.4(F11):c.434A>C (p.His145Pro)
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
NM_000128.4(F11):c.485+1G>T
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.596-7_600del rs1057517116
NM_000128.4(F11):c.60T>A (p.Cys20Ter)
NM_000128.4(F11):c.614del (p.Phe205fs)
NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del) rs1459304265
NM_000128.4(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.4(F11):c.668del (p.Ala223fs)
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
NM_000128.4(F11):c.729_735del (p.Gln244fs)
NM_000128.4(F11):c.738del (p.Trp246fs)
NM_000128.4(F11):c.751C>T (p.Gln251Ter) rs754087775
NM_000128.4(F11):c.752_755+25delinsT
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
NM_000128.4(F11):c.908del (p.Gly303fs) rs786204722
NM_000128.4(F11):c.90del (p.Phe30fs)
NM_000128.4(F11):c.961_962del (p.Cys321fs) rs786204449
NM_000128.4(F11):c.963C>A (p.Cys321Ter)
NM_000128.4(F11):c.964_965del (p.Thr322fs) rs1057516431
NM_000128.4(F11):c.973G>T (p.Val325Phe) rs764711007
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
NM_000128.4(F11):c.990del (p.Phe330fs) rs1554082938
NM_000128.4(F11):c.990dup (p.Thr331fs) rs1554082938
Single allele

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