ClinVar Miner

List of variants in gene F11 reported as pathogenic by OMIM

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Total variants: 16
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F11, DEL
NM_000128.3(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.3(F11):c.1378T>G (p.Phe460Val) rs121965065
NM_000128.3(F11):c.166T>C (p.Cys56Arg) rs121965069
NM_000128.3(F11):c.1716+1G>A rs373297713
NM_000128.3(F11):c.1760G>C (p.Trp587Ser) rs121965072
NM_000128.3(F11):c.1782C>A (p.Ser594Arg) rs28934609
NM_000128.3(F11):c.403G>T (p.Glu135Ter) rs121965063
NM_000128.3(F11):c.438C>A (p.Cys146Ter) rs121965066
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.976C>T (p.Arg326Cys) rs28934608
NM_000128.4(F11):c.1029-2A>G rs1024865708
NM_000128.4(F11):c.485+5G>C rs1173748968

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