ClinVar Miner

List of variants in gene GAA reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 5
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HGVS dbSNP
NM_000152.5(GAA):c.1504A>G (p.Met502Val) rs376067362
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724

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