ClinVar Miner

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

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Total variants: 71
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HGVS dbSNP gnomAD frequency
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393 0.25907
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192 0.06550
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622 0.00029
NM_020361.5(CPA6):c.61T>A (p.Phe21Ile) rs147067921 0.00024
NM_020361.5(CPA6):c.624G>T (p.Trp208Cys) rs762000090 0.00014
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) rs201589247 0.00010
NM_020361.5(CPA6):c.193-4A>G rs776127035 0.00008
NM_020361.5(CPA6):c.274C>T (p.Arg92Ter) rs774401459 0.00006
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384 0.00006
NM_020361.5(CPA6):c.229T>A (p.Ser77Thr) rs780171379 0.00005
NM_020361.5(CPA6):c.54del (p.Trp19fs) rs778807405 0.00005
NM_020361.5(CPA6):c.275G>A (p.Arg92Gln) rs147475942 0.00004
NM_020361.5(CPA6):c.374A>G (p.Gln125Arg) rs200114239 0.00004
NM_020361.5(CPA6):c.105C>A (p.Asn35Lys) rs530829401 0.00003
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu) rs183899632 0.00003
NM_020361.5(CPA6):c.127A>G (p.Ile43Val) rs766547893 0.00003
NM_020361.5(CPA6):c.19C>T (p.Arg7Cys) rs138360068 0.00003
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.382C>T (p.Arg128Ter) rs768188762 0.00002
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472 0.00002
NM_020361.5(CPA6):c.397G>C (p.Gly133Arg) rs746521547 0.00002
NM_020361.5(CPA6):c.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.551G>A (p.Arg184Gln) rs768944284 0.00002
NM_020361.5(CPA6):c.102C>T (p.Asn34=) rs1228904142 0.00001
NM_020361.5(CPA6):c.106C>T (p.Arg36Cys) rs752233230 0.00001
NM_020361.5(CPA6):c.163del (p.Ala55fs) rs760392592 0.00001
NM_020361.5(CPA6):c.170A>G (p.Lys57Arg) rs1188067416 0.00001
NM_020361.5(CPA6):c.234G>A (p.Glu78=) rs1239973110 0.00001
NM_020361.5(CPA6):c.255T>C (p.His85=) rs539581100 0.00001
NM_020361.5(CPA6):c.289T>C (p.Phe97Leu) rs1249651960 0.00001
NM_020361.5(CPA6):c.290T>C (p.Phe97Ser) rs372902713 0.00001
NM_020361.5(CPA6):c.317A>T (p.Lys106Met) rs1044751209 0.00001
NM_020361.5(CPA6):c.360C>A (p.Ser120Arg) rs1277121732 0.00001
NM_020361.5(CPA6):c.419A>G (p.His140Arg) rs199809258 0.00001
NM_020361.5(CPA6):c.426A>G (p.Leu142=) rs777807877 0.00001
NM_020361.5(CPA6):c.494T>C (p.Ile165Thr) rs1487624789 0.00001
NM_020361.5(CPA6):c.529T>C (p.Leu177=) rs774952258 0.00001
NM_020361.5(CPA6):c.545G>A (p.Arg182Gln) rs765453517 0.00001
NM_020361.5(CPA6):c.597A>G (p.Glu199=) rs751220431 0.00001
NM_020361.5(CPA6):c.80C>T (p.Pro27Leu) rs757926740 0.00001
NC_000008.11:g.(?_67422484)_(67434260_?)dup
NC_000008.11:g.(?_67422484)_(67746149_?)dup
NC_000008.11:g.(?_67483748)_(67484809_?)del
NC_000008.11:g.(?_67624156)_(67624271_?)del
NM_020361.5(CPA6):c.107G>A (p.Arg36His) rs183899632
NM_020361.5(CPA6):c.111T>C (p.Tyr37=) rs1587747257
NM_020361.5(CPA6):c.116+5G>C rs1281394588
NM_020361.5(CPA6):c.117-9_117-5del rs2128986980
NM_020361.5(CPA6):c.125T>C (p.Val42Ala) rs1554526426
NM_020361.5(CPA6):c.129_130del (p.Ile43fs) rs1587646001
NM_020361.5(CPA6):c.12C>T (p.Leu4=) rs754451669
NM_020361.5(CPA6):c.192+4A>C rs775478331
NM_020361.5(CPA6):c.192+5_192+15del rs1429763120
NM_020361.5(CPA6):c.20G>A (p.Arg7His) rs373565150
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.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.329A>T (p.Glu110Val) rs1480644555
NM_020361.5(CPA6):c.380A>G (p.Asn127Ser) rs1812043338
NM_020361.5(CPA6):c.488_490del (p.Phe163del) rs1587505484
NM_020361.5(CPA6):c.517T>G (p.Ser173Ala) rs1587505420
NM_020361.5(CPA6):c.535-1G>A rs766751629
NM_020361.5(CPA6):c.535-1G>T rs766751629
NM_020361.5(CPA6):c.579T>C (p.Cys193=) rs1811938981
NM_020361.5(CPA6):c.621G>A (p.Gln207=) rs1452381225
NM_020361.5(CPA6):c.636+5G>A rs1166618180
NM_020361.5(CPA6):c.63T>G (p.Phe21Leu) rs1818002133

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