ClinVar Miner

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

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Total variants: 12
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NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1432G>A (p.Gly478Arg) rs542967227
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
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.755+2T>C rs1220869989
NM_000128.3(F11):c.802C>T (p.Arg268Cys) rs763496524
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064

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