ClinVar Miner

List of variants in gene CPA6 reported as likely benign for Febrile seizures, familial, 11

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_020361.5(CPA6):c.61T>A (p.Phe21Ile) rs147067921 0.00024
NM_020361.5(CPA6):c.193-4A>G rs776127035 0.00008
NM_020361.5(CPA6):c.54del (p.Trp19fs) rs778807405 0.00005
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526 0.00003
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137 0.00003
NM_020361.5(CPA6):c.317+8T>C rs748471446 0.00002
NM_020361.5(CPA6):c.102C>T (p.Asn34=) rs1228904142 0.00001
NM_020361.5(CPA6):c.255T>C (p.His85=) rs539581100 0.00001
NM_020361.5(CPA6):c.426A>G (p.Leu142=) rs777807877 0.00001
NM_020361.5(CPA6):c.529T>C (p.Leu177=) rs774952258 0.00001
NM_020361.5(CPA6):c.597A>G (p.Glu199=) rs751220431 0.00001
NM_020361.5(CPA6):c.111T>C (p.Tyr37=) rs1587747257
NM_020361.5(CPA6):c.117-9_117-5del rs2128986980
NM_020361.5(CPA6):c.12C>T (p.Leu4=) rs754451669
NM_020361.5(CPA6):c.21C>T (p.Arg7=) rs2129005002
NM_020361.5(CPA6):c.24G>A (p.Arg8=) rs777248963
NM_020361.5(CPA6):c.266del (p.Asn89fs) rs770265319
NM_020361.5(CPA6):c.579T>C (p.Cys193=) rs1811938981
NM_020361.5(CPA6):c.621G>A (p.Gln207=) rs1452381225

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