ClinVar Miner

List of variants in gene GAA reported as uncertain significance by Integrated Genetics/Laboratory Corporation of America

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Total variants: 11
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HGVS dbSNP
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys) rs372486238
NM_000152.5(GAA):c.1195-15G>A rs373840229
NM_000152.5(GAA):c.1437+8G>A rs779194427
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956
NM_000152.5(GAA):c.1952G>T (p.Gly651Val) rs939350425
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2190-4G>A rs759974338
NM_000152.5(GAA):c.2481+128A>G rs760656694
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln) rs149968110
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846
NM_000152.5(GAA):c.725C>T (p.Ala242Val) rs745861849

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