List of variants reported as likely benign for lysosomal glycogen storage disease by ClinGen Lysosomal Storage Disorder Variant Curation Expert Panel

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.1552-13G>A	rs111261964	0.00276
NM_000152.5(GAA):c.676C>G (p.Leu226Val)	rs113085339	0.00193
NM_000152.5(GAA):c.258C>A (p.Pro86=)	rs146615896	0.00170
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)	rs7215458	0.00140
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)	rs141017311	0.00021
NM_000152.5(GAA):c.1332T>C (p.Pro444=)	rs200007324	0.00015
NM_000152.5(GAA):c.1920T>G (p.Pro640=)	rs144090460	0.00010
NM_000152.5(GAA):c.658G>T (p.Val220Leu)	rs530478036	0.00007

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