ClinVar Miner

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

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 32
Download table as spreadsheet
HGVS dbSNP
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.4(CPA6):c.-247C>A rs530580560
NM_020361.5(CPA6):c.-11_-10del rs531326049
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-76T>G rs886063083
NM_020361.5(CPA6):c.107G>T (p.Arg36Leu)
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
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.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.329A>T (p.Glu110Val)
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472
NM_020361.5(CPA6):c.488_490del (p.Phe163del)
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
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.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) rs199576384
NM_020361.5(CPA6):c.636+5G>A rs1166618180
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.