List of variants in gene GAA reported as pathogenic by Molecular Therapies Laboratory, Murdoch University

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.953T>C (p.Met318Thr)	rs121907936	0.00006
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg)	rs755253527
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs)	rs786204646
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)	rs2039275157
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)	rs2039287628

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