ClinVar Miner

List of variants in gene ATP8A2 reported by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_016529.6(ATP8A2):c.1398-13T>G rs80107486 0.01012
NM_016529.6(ATP8A2):c.2278G>A (p.Val760Met) rs35540339 0.00881
NM_016529.6(ATP8A2):c.3075+19T>C rs41291650 0.00567
NM_016529.6(ATP8A2):c.3075A>G (p.Lys1025=) rs62636611 0.00327
NM_016529.6(ATP8A2):c.76+10G>A rs369291641 0.00081

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.