ClinVar Miner

List of variants in gene F11 reported by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 46
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HGVS dbSNP
NM_000128.3(F11):c.-2G>C rs1580057911
NM_000128.3(F11):c.1106A>G (p.Tyr369Cys) rs1580090672
NM_000128.3(F11):c.1118T>C (p.Leu373Ser) rs375440170
NM_000128.3(F11):c.1120T>C (p.Cys374Arg) rs1580090765
NM_000128.3(F11):c.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.3(F11):c.1192G>A (p.Glu398Lys) rs746475013
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.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1305-5C>T rs375998777
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1328G>A (p.Arg443His) rs373212439
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
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.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1646A>G (p.Tyr549Cys) rs755529772
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.1699G>A (p.Gly567Arg) rs1580108251
NM_000128.3(F11):c.1751A>T (p.Asn584Ile) rs773581347
NM_000128.3(F11):c.1772G>C (p.Gly591Ala) rs1580110270
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.3(F11):c.302A>G (p.Lys101Arg) rs281875272
NM_000128.3(F11):c.343del (p.Tyr115fs) rs1580075457
NM_000128.3(F11):c.359T>C (p.Met120Thr) rs767727775
NM_000128.3(F11):c.365G>A (p.Gly122Asp) rs369650561
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
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.599G>A (p.Cys200Tyr) rs757817254
NM_000128.3(F11):c.634G>A (p.Asp212Asn) rs1580080555
NM_000128.3(F11):c.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.728C>T (p.Ser243Phe) rs1262002209
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.755+2T>C rs1220869989
NM_000128.3(F11):c.783G>C (p.Glu261Asp) rs201079681
NM_000128.3(F11):c.802C>T (p.Arg268Cys) rs763496524
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
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.976C>T (p.Arg326Cys) rs28934608
Single allele

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