ClinVar Miner

List of variants in gene GAA reported as likely pathogenic by Invitae

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Total variants: 10
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HGVS dbSNP
NC_000017.10:g.(?_78081336)_(78087185_?)del
NM_000152.5(GAA):c.1438-1G>T
NM_000152.5(GAA):c.1552-3C>G rs375470378
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp) rs1057517105
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys) rs369531647
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg) rs1555601773
NM_000152.5(GAA):c.2332-1G>C rs1555602832
NM_000152.5(GAA):c.546+5G>T rs756024023
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
NM_000152.5(GAA):c.784G>A (p.Glu262Lys) rs201896815

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