ClinVar Miner

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

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Gene type:
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Total variants: 14
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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.1137G>C (p.Glu379Asp) rs1580098240
NM_000128.3(F11):c.1192G>A (p.Glu398Lys) rs746475013
NM_000128.3(F11):c.1305-5C>T rs375998777
NM_000128.3(F11):c.1328G>A (p.Arg443His) rs373212439
NM_000128.3(F11):c.1646A>G (p.Tyr549Cys) rs755529772
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.634G>A (p.Asp212Asn) rs1580080555
NM_000128.3(F11):c.731A>G (p.Gln244Arg) rs5969
NM_000128.3(F11):c.783G>C (p.Glu261Asp) rs201079681
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070

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