ClinVar Miner

List of variants in gene combination CPA6, LOC102724708 reported as benign for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122
NM_020361.5(CPA6):c.637-3T>C rs138798669
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759

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.