ClinVar Miner

List of variants in gene GAA reported as likely pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000152.5(GAA):c.1552-3C>G rs375470378 0.00008
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu) rs148842275 0.00004
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp) rs1393386120 0.00001
NM_000152.5(GAA):c.1020C>G (p.Tyr340Ter)
NM_000152.5(GAA):c.1243_1244del (p.Thr415fs)
NM_000152.5(GAA):c.1445C>T (p.Pro482Leu) rs2039212985
NM_000152.5(GAA):c.1547G>A (p.Trp516Ter) rs2039217093
NM_000152.5(GAA):c.1575_1576del (p.Ile526fs)
NM_000152.5(GAA):c.1814del (p.Gly605fs)
NM_000152.5(GAA):c.1966del (p.Glu656fs)
NM_000152.5(GAA):c.2088del (p.Lys697fs)
NM_000152.5(GAA):c.2130C>A (p.Tyr710Ter) rs2039289942
NM_000152.5(GAA):c.2143C>T (p.Gln715Ter) rs1275298143
NM_000152.5(GAA):c.2319C>A (p.Tyr773Ter)
NM_000152.5(GAA):c.2345_2346insA (p.Leu783fs)
NM_000152.5(GAA):c.2383G>T (p.Glu795Ter) rs886043882
NM_000152.5(GAA):c.2395del (p.His799fs)
NM_000152.5(GAA):c.2545A>T (p.Lys849Ter) rs2039403673
NM_000152.5(GAA):c.2619C>A (p.Tyr873Ter) rs1555603132
NM_000152.5(GAA):c.596_600delinsGTGT (p.His199fs)
NM_000152.5(GAA):c.829_830del (p.Thr277fs)
NM_000152.5(GAA):c.904G>T (p.Glu302Ter) rs2039131123
NM_000152.5(GAA):c.917C>A (p.Ser306Ter) rs138097673

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