ClinVar Miner

List of variants in gene F11 reported as pathogenic for coagulation protein disease

Included ClinVar conditions (43):
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
F11, DEL
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1211C>A (p.Thr404Asn) rs121965067
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1247G>A (p.Cys416Tyr) rs779802284
NM_000128.3(F11):c.1253G>T (p.Gly418Val) rs121965071
NM_000128.3(F11):c.1288G>A (p.Ala430Thr) rs753909969
NM_000128.3(F11):c.1289C>T (p.Ala430Val) rs121965068
NM_000128.3(F11):c.1325del (p.Leu442fs) rs757530565
NM_000128.3(F11):c.1378T>G (p.Phe460Val) rs121965065
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.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.326-1G>A rs1057517364
NM_000128.3(F11):c.365G>A (p.Gly122Asp)
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.755+2T>C rs1220869989
NM_000128.3(F11):c.802C>T (p.Arg268Cys)
NM_000128.3(F11):c.809A>T (p.Lys270Ile) rs121965070
NM_000128.3(F11):c.841C>T (p.Gln281Ter) rs770505620
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000128.3(F11):c.976C>T (p.Arg326Cys) rs28934608
NM_000128.3:c.1029-2A>G
NM_001354804.2(F11):c.*1G>C

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