ClinVar Miner

List of variants in gene CPA6 reported as uncertain significance for childhood-onset epilepsy syndrome

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 37
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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.-11_-10del rs531326049 0.00031
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622 0.00029
NM_020361.5(CPA6):c.-108G>A rs188334231 0.00023
NM_020361.4(CPA6):c.-247C>A rs530580560 0.00011
NM_020361.5(CPA6):c.581G>A (p.Gly194Asp) rs201589247 0.00010
NM_020361.5(CPA6):c.442T>C (p.Trp148Arg) rs771067681 0.00004
NM_020361.5(CPA6):c.-51C>A rs758163267 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.505T>C (p.Tyr169His) rs201643526 0.00003
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137 0.00003
NM_020361.5(CPA6):c.-191T>C rs1014766923 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.534+4A>G rs766728291 0.00002
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224 0.00002
NM_020361.5(CPA6):c.-76T>G rs886063083 0.00001
NM_020361.5(CPA6):c.140C>G (p.Pro47Arg) rs981686338 0.00001
NM_020361.5(CPA6):c.466C>T (p.His156Tyr) rs368127412 0.00001
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.-203C>T rs1587747750
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-87C>A rs559634854
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
NM_020361.5(CPA6):c.116+11C>A rs141229869
NM_020361.5(CPA6):c.117-25562dup rs996734526
NM_020361.5(CPA6):c.192+29464G>T rs2128981874
NM_020361.5(CPA6):c.20G>A (p.Arg7His) rs373565150
NM_020361.5(CPA6):c.20G>T (p.Arg7Leu) rs373565150
NM_020361.5(CPA6):c.26G>A (p.Gly9Asp) rs1818003481
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.453T>C (p.His151=) rs1812002711
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.619C>T (p.Gln207Ter) rs35993949

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