ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 28
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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.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.1888+21G>A rs2304837
NM_000152.5(GAA):c.2040+20A>G rs2304836
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
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.2553G>A (p.Gly851=) rs1042397
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
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.852G>A (p.Ala284=) rs142626724
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303
NM_000152.5(GAA):c.955+12G>A rs2252455

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