ClinVar Miner

List of variants studied for Glycogen storage disease, type II by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815 0.00004
NM_000152.5(GAA):c.2066_2070dup (p.Ala691fs) rs398123171
NM_000152.5(GAA):c.2082del (p.Ala694_Met695insTer) rs2039287852

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.