ClinVar Miner

List of variants in gene FGF13 reported as pathogenic for epilepsy

Included ClinVar conditions (438):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_004114.5(FGF13):c.14T>G (p.Ile5Ser) rs2124253547
NM_004114.5(FGF13):c.23C>A (p.Ser8Ter)
NM_004114.5(FGF13):c.31C>T (p.Arg11Cys) rs2090039774
NM_004114.5(FGF13):c.32G>C (p.Arg11Pro) rs2090039732
NM_004114.5(FGF13):c.41G>C (p.Arg14Thr) rs2090039606

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