ClinVar Miner

List of variants in gene CPA6 studied for Febrile seizures, familial, 11

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Total variants: 20
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HGVS dbSNP
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
NM_020361.5(CPA6):c.116+5G>C rs1281394588
NM_020361.5(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.5(CPA6):c.127A>G (p.Ile43Val)
NM_020361.5(CPA6):c.129_130del (p.Ile43fs)
NM_020361.5(CPA6):c.163del (p.Ala55fs)
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys)
NM_020361.5(CPA6):c.20G>A (p.Arg7His)
NM_020361.5(CPA6):c.229T>A (p.Ser77Thr)
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser)
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.329A>T (p.Glu110Val)
NM_020361.5(CPA6):c.488_490del (p.Phe163del)
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) rs1487624789
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala)
NM_020361.5(CPA6):c.534+4A>G rs766728291
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.636+5G>A rs1166618180

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