ClinVar Miner

List of variants in gene GAA reported by Genetic Services Laboratory, University of Chicago

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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys) rs1800309
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1203G>A (p.Gln401=) rs1800304
NM_000152.5(GAA):c.1374C>T (p.Tyr458=) rs1800305
NM_000152.5(GAA):c.1581G>A (p.Arg527=) rs1042396
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307
NM_000152.5(GAA):c.2133A>G (p.Thr711=) rs1800310
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000152.5(GAA):c.2338G>A (p.Val780Ile) rs1126690
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.271G>A (p.Asp91Asn) rs1800299
NM_000152.5(GAA):c.2780C>T (p.Thr927Ile) rs1800315
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536
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.688G>A (p.Val230Met) rs145866792
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000152.5(GAA):c.858+8G>A rs5822325
NM_000152.5(GAA):c.917C>T (p.Ser306Leu) rs138097673
NM_000152.5(GAA):c.921A>T (p.Ala307=) rs1800303

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