ClinVar Miner

List of variants in gene FGF13 studied for epilepsy

Included ClinVar conditions (435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001139500.2(FGF13):c.116C>T (p.Ala39Val)
NM_001139500.2(FGF13):c.137C>T (p.Ser46Phe)
NM_004114.5(FGF13):c.127T>G (p.Leu43Val)
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
NM_004114.5(FGF13):c.482G>A (p.Arg161His)
NM_004114.5(FGF13):c.589A>G (p.Lys197Glu)
NM_004114.5(FGF13):c.5C>G (p.Ala2Gly)

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