ClinVar Miner

List of variants in gene F11 reported as pathogenic by Fulgent Genetics, Fulgent Genetics

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_000128.4(F11):c.403G>T (p.Glu135Ter) rs121965063 0.00066
NM_000128.4(F11):c.901T>C (p.Phe301Leu) rs121965064 0.00065
NM_000128.4(F11):c.438C>A (p.Cys146Ter) rs121965066 0.00005
NM_000128.4(F11):c.1107C>A (p.Tyr369Ter) rs773905328 0.00003
NM_000128.4(F11):c.1489C>T (p.Arg497Ter) rs375422404 0.00003
NM_000128.4(F11):c.1556G>A (p.Trp519Ter) rs201007090 0.00001
NM_000128.4(F11):c.67C>T (p.Gln23Ter) rs768409400 0.00001
NM_000128.4(F11):c.841C>T (p.Gln281Ter) rs770505620 0.00001
NM_000128.4(F11):c.1075del (p.Ile359fs) rs786204429
NM_000128.4(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.4(F11):c.1313C>A (p.Ser438Ter) rs786204724

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