ClinVar Miner

List of variants in gene GAA reported by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.*223C>T rs8132
NM_000152.5(GAA):c.*3G>A rs1800317
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1075+13C>T rs41292402
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1327-18A>G rs2278619
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1438-19G>C rs2304844
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1754+12G>A rs2304840
NM_000152.5(GAA):c.1755-18T>C rs201399518
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1888+21G>A rs2304837
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2190-29G>A rs142573163
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.2331+20G>A rs2304832
NM_000152.5(GAA):c.2331+24T>C rs2304831
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591
NM_000152.5(GAA):c.2446G>A (p.Val816Ile) rs1800314
NM_000152.5(GAA):c.2481+16G>A rs41292408
NM_000152.5(GAA):c.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.525del (p.Glu176fs) rs386834235
NM_000152.5(GAA):c.546+18G>A rs190153982
NM_000152.5(GAA):c.547-4C>G rs3816256
NM_000152.5(GAA):c.596A>G (p.His199Arg) rs1042393
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301
NM_000152.5(GAA):c.668G>A (p.Arg223His) rs1042395
NM_000152.5(GAA):c.692+17G>C rs199559553
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.955+12G>A rs2252455

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.