ClinVar Miner

List of variants reported as likely pathogenic for Glycogen storage disease type IXa1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) rs1569344469
NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) rs1556016365
NM_000292.3(PHKA2):c.1714+1G>A rs1556002344
NM_000292.3(PHKA2):c.2597+1G>A rs1210626722
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp) rs1569297427
NM_000292.3(PHKA2):c.3336+2T>A rs1555988479
NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) rs137852293
NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) rs1556014969
NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) rs137852294
NM_000292.3(PHKA2):c.557G>A (p.Arg186His) rs137852290
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000292.3(PHKA2):c.884G>A (p.Arg295His) rs797044877

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.