List of variants in gene GAA reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1552-13G>A	rs111261964	0.00276
NM_000152.5(GAA):c.2647-8C>T	rs139201641	0.00216
NM_000152.5(GAA):c.676C>G (p.Leu226Val)	rs113085339	0.00193
NM_000152.5(GAA):c.2332-12A>T	rs200965268	0.00178
NM_000152.5(GAA):c.692+17G>C	rs199559553	0.00147
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)	rs7215458	0.00140
NM_000152.5(GAA):c.1830C>T (p.Ala610=)	rs61736896	0.00118
NM_000152.5(GAA):c.915G>A (p.Gly305=)	rs150343359	0.00113
NM_000152.5(GAA):c.726G>A (p.Ala242=)	rs148578399	0.00101
NM_000152.5(GAA):c.1754+11C>T	rs371644603	0.00034
NM_000152.5(GAA):c.1356C>T (p.Ala452=)	rs757893858	0.00006
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)	rs112517802	0.00006
NM_000152.5(GAA):c.547-41G>C	rs753870549	0.00001
NM_000152.5(GAA):c.858+6GCGGCGG[3]	rs1555599723

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