ClinVar Miner

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

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Gene type:
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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser) rs372786811 0.00007
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys) rs144016984 0.00003
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys) rs771213237 0.00002
NM_000152.5(GAA):c.971C>T (p.Pro324Leu) rs750030887 0.00002
NM_000152.5(GAA):c.1626C>G (p.Pro542=) rs947585663 0.00001
NM_000152.5(GAA):c.2738C>G (p.Pro913Arg) rs1480070037 0.00001
NM_000152.5(GAA):c.1347_1350del (p.Gly450fs)
NM_000152.5(GAA):c.1438-1G>T rs147804176
NM_000152.5(GAA):c.1501_1515del (p.Asp501_Glu505del) rs1064794524
NM_000152.5(GAA):c.1564C>A (p.Pro522Thr) rs892129065
NM_000152.5(GAA):c.1841C>T (p.Thr614Met) rs369531647
NM_000152.5(GAA):c.1940G>T (p.Cys647Phe) rs1265892085
NM_000152.5(GAA):c.1961C>A (p.Ser654Ter) rs1057518106
NM_000152.5(GAA):c.2061del (p.Phe687fs) rs1064796706
NM_000152.5(GAA):c.727G>A (p.Asp243Asn) rs1555599600

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