List of variants reported as pathogenic for Glycogen storage disease, type II by Department of Pediatrics, Division of Medical Genetics, Faculty of Medicine Ramathibodi Hospital, Mahidol University

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)	rs543360994	0.00004
NM_000152.5(GAA):c.1226_1227insG (p.Asp409fs)	rs1598578030
NM_000152.5(GAA):c.1538A>G (p.Asp513Gly)	rs1598581682
NM_000152.5(GAA):c.1895T>G (p.Leu632Arg)	rs1598585402
NM_000152.5(GAA):c.876C>G (p.Tyr292Ter)	rs763216519

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