ClinVar Miner

List of variants in gene GAA studied for Glycogen storage disease II, adult form

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1585_1586delinsGT (p.Ser529Val) rs121907941
NM_000152.5(GAA):c.1634C>T (p.Pro545Leu) rs121907942
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg) rs28937909
NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) rs121907938
NM_000152.5(GAA):c.710C>T (p.Ala237Val) rs121907944
NM_000152.5(GAA):c.877G>A (p.Gly293Arg) rs121907945

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.