ClinVar Miner

List of variants in gene GAA reported as uncertain significance by GeneDx

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Total variants: 11
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HGVS dbSNP
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys) rs144857480
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn) rs535644999
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu) rs143491365
NM_000152.5(GAA):c.1630G>A (p.Val544Met) rs567695610
NM_000152.5(GAA):c.1882G>T (p.Val628Leu) rs745911962
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu) rs532624326
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu) rs146762316
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys) rs377249041
NM_000152.5(GAA):c.59C>G (p.Ser20Cys) rs752449306
NM_000152.5(GAA):c.607C>T (p.Arg203Trp) rs751286274

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