ClinVar Miner

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

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Gene type:
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Total variants: 20
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HGVS dbSNP
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.1199C>T (p.Pro400Leu) rs533335580
NM_000128.3(F11):c.1207G>A (p.Val403Met) rs281875266
NM_000128.3(F11):c.1489C>T (p.Arg497Ter) rs375422404
NM_000128.3(F11):c.1613C>T (p.Pro538Leu) rs139695003
NM_000128.3(F11):c.1693G>A (p.Glu565Lys) rs281875275
NM_000128.3(F11):c.1778C>T (p.Thr593Met) rs145906668
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.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.664G>T (p.Asp222Tyr) rs281875245
NM_000128.3(F11):c.728C>T (p.Ser243Phe) rs1262002209
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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