ClinVar Miner

List of variants in gene GAA reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
NM_000152.5(GAA):c.1075+9T>C rs751918816
NM_000152.5(GAA):c.1087A>G (p.Met363Val)
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1755-18T>C rs201399518
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1952G>T (p.Gly651Val) rs939350425
NM_000152.5(GAA):c.2040+17G>A rs534129336
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro) rs398123172
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2481+128A>G rs760656694
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823

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.