ClinVar Miner

List of variants in gene F11 studied for Hereditary factor XI deficiency disease

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Gene type:
ClinVar version:
Total variants: 275
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.*479A>T rs1062547 0.40400
NM_000128.4(F11):c.*296G>C rs4253430 0.39990
NM_000128.3(F11):c.-316C>G rs3733403 0.18163
NM_000128.4(F11):c.*265A>G rs4253429 0.16938
NM_000128.4(F11):c.*852G>A rs4253431 0.16273
NM_000128.4(F11):c.1191T>C (p.Gly397=) rs5970 0.16228
NM_000128.4(F11):c.801A>G (p.Thr267=) rs5974 0.16187
NM_000128.4(F11):c.*322G>A rs4253865 0.07317
NM_000128.4(F11):c.1812G>T (p.Arg604=) rs5971 0.06917
NM_000128.4(F11):c.1717-48A>G rs5966 0.06916
NM_000128.4(F11):c.429C>T (p.Asp143=) rs5973 0.06445
NM_000128.4(F11):c.1839G>A (p.Glu613=) rs5976 0.04596
NM_000128.4(F11):c.1707C>T (p.Asp569=) rs5975 0.02893
NM_000128.4(F11):c.*885G>A rs4253432 0.01236
NM_000128.4(F11):c.-54G>A rs4253814 0.01170
NM_000128.4(F11):c.*551A>T rs186377697 0.00654
NM_000128.4(F11):c.1016G>T (p.Cys339Phe) rs5967 0.00586
NM_000128.4(F11):c.731A>G (p.Gln244Arg) rs5969 0.00564
NM_000128.4(F11):c.*404A>G rs139159299 0.00471
NM_000128.4(F11):c.*1A>G rs143899287 0.00378
NM_000128.4(F11):c.1304+12G>A rs116667976 0.00295
NM_000128.4(F11):c.453C>T (p.Tyr151=) rs34807019 0.00248
NM_000128.4(F11):c.*175C>T rs148610742 0.00153
NM_000128.4(F11):c.1305-9G>T rs4253426 0.00153
NM_000128.4(F11):c.861C>T (p.Ile287=) rs5964 0.00107
NM_000128.4(F11):c.1020C>T (p.Asn340=) rs149052026 0.00100
NM_000128.4(F11):c.*822A>G rs558079340 0.00067
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_000128.4(F11):c.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.*928G>A rs556465646 0.00043
NM_000128.4(F11):c.539A>G (p.Lys180Arg) rs190283743 0.00036
NM_000128.4(F11):c.*728T>C rs566734345 0.00033
NM_000128.4(F11):c.1305-5C>T rs375998777 0.00032
NM_000128.4(F11):c.1084G>A (p.Gly362Arg) rs142096488 0.00028
NM_000128.4(F11):c.*584A>T rs766777099 0.00024
NM_000128.4(F11):c.*884C>T rs117035365 0.00024
NM_000128.4(F11):c.1029-11T>C rs373348576 0.00021
NM_000128.4(F11):c.1028+9T>C rs376630194 0.00020
NM_000128.4(F11):c.1431C>T (p.Ser477=) rs149568223 0.00016
NM_000128.4(F11):c.1843G>A (p.Val615Met) rs202061241 0.00016
NM_000128.4(F11):c.596-6G>A rs369721182 0.00015
NM_000128.4(F11):c.*902G>A rs555668089 0.00010
NM_000128.4(F11):c.1613C>T (p.Pro538Leu) rs139695003 0.00010
NM_000128.4(F11):c.*346A>G rs1033944547 0.00009
NM_000128.4(F11):c.1305-14T>C rs199761451 0.00009
NM_000128.4(F11):c.*952G>A rs886059303 0.00008
NM_000128.4(F11):c.1200G>A (p.Pro400=) rs150377265 0.00007
NM_000128.4(F11):c.783G>C (p.Glu261Asp) rs201079681 0.00007
NM_000128.3(F11):c.-183T>C rs886059297 0.00006
NM_000128.4(F11):c.-57G>A rs1043431996 0.00006
NM_000128.4(F11):c.1288G>A (p.Ala430Thr) rs753909969 0.00006
NM_000128.4(F11):c.1328G>A (p.Arg443His) rs373212439 0.00006
NM_000128.4(F11):c.1480+4C>T rs370328133 0.00006
NM_000128.4(F11):c.1836C>T (p.Val612=) rs775708833 0.00006
NM_000128.4(F11):c.219-11T>A rs886059298 0.00006
NM_000128.4(F11):c.642C>T (p.Asn214=) rs372572261 0.00006
NM_000128.4(F11):c.943G>A (p.Glu315Lys) rs281875257 0.00006
NM_000128.4(F11):c.*576G>A rs886059301 0.00005
NM_000128.4(F11):c.1118T>C (p.Leu373Ser) rs375440170 0.00005
NM_000128.4(F11):c.434A>G (p.His145Arg) rs199657604 0.00005
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.802C>T (p.Arg268Cys) rs763496524 0.00005
NM_000128.4(F11):c.*186C>T rs142128633 0.00004
NM_000128.4(F11):c.1778C>T (p.Thr593Met) rs145906668 0.00004
NM_000128.4(F11):c.345T>C (p.Tyr115=) rs766137229 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.56-6T>C rs374122923 0.00004
NM_000128.4(F11):c.723C>G (p.Phe241Leu) rs281875265 0.00004
NM_000128.4(F11):c.803G>A (p.Arg268His) rs201688862 0.00004
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1135+5G>A rs758515608 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.1683C>T (p.Ala561=) rs770473069 0.00003
NM_000128.4(F11):c.1716+1G>A rs373297713 0.00003
NM_000128.4(F11):c.3G>T (p.Met1Ile) rs755700350 0.00003
NM_000128.4(F11):c.478G>T (p.Glu160Ter) rs376961859 0.00003
NM_000128.4(F11):c.*1033A>G rs886059305 0.00002
NM_000128.4(F11):c.-70G>A rs755606015 0.00002
NM_000128.4(F11):c.1219A>G (p.Thr407Ala) rs369822221 0.00002
NM_000128.4(F11):c.1842C>T (p.Tyr614=) rs143588436 0.00002
NM_000128.4(F11):c.325+5G>T rs372102736 0.00002
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.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 0.00002
NM_000128.4(F11):c.976C>T (p.Arg326Cys) rs28934608 0.00002
NM_000128.3(F11):c.-326C>G rs753031984 0.00001
NM_000128.3(F11):c.-456G>A rs1004061199 0.00001
NM_000128.4(F11):c.*448A>G rs368132203 0.00001
NM_000128.4(F11):c.*763T>A rs576164426 0.00001
NM_000128.4(F11):c.*817A>G rs1441037997 0.00001
NM_000128.4(F11):c.*846T>C rs988525367 0.00001
NM_000128.4(F11):c.1026G>T (p.Gly342=) rs768894507 0.00001
NM_000128.4(F11):c.1060G>A (p.Gly354Arg) rs777714867 0.00001
NM_000128.4(F11):c.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1136-7_1136-4del rs1439195599 0.00001
NM_000128.4(F11):c.1178C>T (p.Ala393Val) rs547842083 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.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1378T>G (p.Phe460Val) rs121965065 0.00001
NM_000128.4(F11):c.1416T>C (p.Tyr472=) rs1053472547 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.1517A>G (p.Asp506Gly) rs281875258 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.1627G>A (p.Glu543Lys) rs142952627 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.1718G>A (p.Gly573Glu) rs754109115 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.188C>T (p.Ala63Val) rs281875244 0.00001
NM_000128.4(F11):c.302A>G (p.Lys101Arg) rs281875272 0.00001
NM_000128.4(F11):c.326-1G>A rs1057517364 0.00001
NM_000128.4(F11):c.359T>C (p.Met120Thr) rs767727775 0.00001
NM_000128.4(F11):c.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 0.00001
NM_000128.4(F11):c.408C>A (p.Cys136Ter) rs143648758 0.00001
NM_000128.4(F11):c.484C>T (p.Arg162Cys) rs748139184 0.00001
NM_000128.4(F11):c.499C>T (p.Leu167=) rs374761594 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.680G>A (p.Gly227Asp) rs1489595409 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.841C>T (p.Gln281Ter) rs770505620 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
NC_000004.12:g.(186261554_186262508)_(?_186293752)del
NM_000128.3(F11):c.-153T>G rs2126696047
NM_000128.3(F11):c.-164G>A rs1739485056
NM_000128.3(F11):c.-233C>T rs1263431242
NM_000128.3(F11):c.-300C>T rs886059296
NM_000128.4(F11):c.*1039G>A rs1741449262
NM_000128.4(F11):c.*174C>T rs1741399736
NM_000128.4(F11):c.*262A>G rs886059300
NM_000128.4(F11):c.*445C>T rs1741414677
NM_000128.4(F11):c.*609C>A rs938214207
NM_000128.4(F11):c.*636A>G rs886059302
NM_000128.4(F11):c.*933C>G rs982607401
NM_000128.4(F11):c.*974ATT[1] rs886059304
NM_000128.4(F11):c.-1-138A>C rs3822057
NM_000128.4(F11):c.-2G>C rs1580057911
NM_000128.4(F11):c.1028+1G>A rs1316806485
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.1049T>C (p.Leu350Pro) rs2126759475
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.4(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.4(F11):c.1135+4A>C
NM_000128.4(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.4(F11):c.1138T>C (p.Cys380Arg)
NM_000128.4(F11):c.1171G>A (p.Gly391Arg) rs1554083456
NM_000128.4(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.4(F11):c.1204C>T (p.Gln402Ter) rs1741002305
NM_000128.4(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.4(F11):c.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1220C>A (p.Thr407Lys)
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.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1275_1281dup (p.Thr428fs) rs1580098946
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.4(F11):c.1304+25_1304+28del rs778294619
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.1321del (p.Ile441fs)
NM_000128.4(F11):c.1325del (p.Leu442fs) rs757530565
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.1388T>A (p.Val463Asp)
NM_000128.4(F11):c.1390C>T (p.Gln464Ter) rs1057517035
NM_000128.4(F11):c.1408del (p.Asp470fs)
NM_000128.4(F11):c.1469T>C (p.Val490Ala)
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.1481-34G>T rs2289253
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.1576+51C>A rs2289254
NM_000128.4(F11):c.1620_1621dup (p.Thr541fs) rs1554084031
NM_000128.4(F11):c.1633T>C (p.Cys545Arg)
NM_000128.4(F11):c.1634G>A (p.Cys545Tyr)
NM_000128.4(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.4(F11):c.1676_1682del (p.Ile559fs) rs1057517171
NM_000128.4(F11):c.1699G>A (p.Gly567Arg) rs1580108251
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.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.174_175dup (p.Phe59fs)
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.4(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.4(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.4(F11):c.1777A>G (p.Thr593Ala) rs1741382224
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.1822T>C (p.Tyr608His) rs281875255
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.1852A>G (p.Ile618Val) rs2126791743
NM_000128.4(F11):c.214C>T (p.Arg72Ter)
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.230T>C (p.Val77Ala) rs1433941674
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.485+5G>C rs1173748968
NM_000128.4(F11):c.486-2A>G rs1057516695
NM_000128.4(F11):c.508A>T (p.Thr170Ser)
NM_000128.4(F11):c.55+6T>G rs1739571881
NM_000128.4(F11):c.55+6delinsGAG rs1554081299
NM_000128.4(F11):c.560G>T (p.Gly187Val) rs1740324523
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.634G>A (p.Asp212Asn) rs1580080555
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.691A>C (p.Thr231Pro)
NM_000128.4(F11):c.717dup (p.Thr240fs)
NM_000128.4(F11):c.719C>T (p.Thr240Ile)
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.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.769del (p.Thr259fs) rs1554082832
NM_000128.4(F11):c.791T>G (p.Leu264Trp)
NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)
NM_000128.4(F11):c.896C>G (p.Thr299Ser)
NM_000128.4(F11):c.89T>C (p.Phe30Ser)
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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