ClinVar Miner

List of variants in gene F11 reported as uncertain significance for Hereditary factor XI deficiency disease

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Gene type:
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Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.*551A>T rs186377697 0.00654
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.1304+12G>A rs116667976 0.00295
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.809A>T (p.Lys270Ile) rs121965070 0.00055
NM_000128.4(F11):c.*928G>A rs556465646 0.00043
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.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.596-6G>A rs369721182 0.00015
NM_000128.4(F11):c.*902G>A rs555668089 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.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.*576G>A rs886059301 0.00005
NM_000128.4(F11):c.434A>G (p.His145Arg) rs199657604 0.00005
NM_000128.4(F11):c.345T>C (p.Tyr115=) rs766137229 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.1135+5G>A rs758515608 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.683G>A (p.Arg228Gln) rs281875246 0.00002
NM_000128.4(F11):c.696T>C (p.His232=) rs746382259 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.1103G>C (p.Gly368Ala) rs748926718 0.00001
NM_000128.4(F11):c.1275G>C (p.Trp425Cys) rs533626812 0.00001
NM_000128.4(F11):c.1416T>C (p.Tyr472=) rs1053472547 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.1627G>A (p.Glu543Lys) rs142952627 0.00001
NM_000128.4(F11):c.1718G>A (p.Gly573Glu) rs754109115 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.365G>A (p.Gly122Asp) rs369650561 0.00001
NM_000128.4(F11):c.374A>G (p.Tyr125Cys) rs1554082187 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.680G>A (p.Gly227Asp) rs1489595409 0.00001
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.-2G>C rs1580057911
NM_000128.4(F11):c.1049T>C (p.Leu350Pro) rs2126759475
NM_000128.4(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
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.1217A>C (p.His406Pro) rs901732635
NM_000128.4(F11):c.1220C>A (p.Thr407Lys)
NM_000128.4(F11):c.1273T>A (p.Trp425Arg) rs1554083512
NM_000128.4(F11):c.1283C>T (p.Thr428Ile) rs1554083516
NM_000128.4(F11):c.1388T>A (p.Val463Asp)
NM_000128.4(F11):c.1469T>C (p.Val490Ala)
NM_000128.4(F11):c.1481-1G>T rs1057516506
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.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.4(F11):c.1741T>C (p.Cys581Arg) rs1554084164
NM_000128.4(F11):c.1751A>T (p.Asn584Ile) rs773581347
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.1852A>G (p.Ile618Val) rs2126791743
NM_000128.4(F11):c.218+4A>G rs767240420
NM_000128.4(F11):c.230T>C (p.Val77Ala) rs1433941674
NM_000128.4(F11):c.449C>T (p.Thr150Met) rs1340928778
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.634G>A (p.Asp212Asn) rs1580080555
NM_000128.4(F11):c.691A>C (p.Thr231Pro)
NM_000128.4(F11):c.719C>T (p.Thr240Ile)
NM_000128.4(F11):c.756A>T (p.Arg252Ser) rs1441160252
NM_000128.4(F11):c.791T>G (p.Leu264Trp)
NM_000128.4(F11):c.896C>G (p.Thr299Ser)
NM_000128.4(F11):c.89T>C (p.Phe30Ser)
NM_000128.4(F11):c.977G>A (p.Arg326His) rs1554082932
Single allele

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