List of variants reported as pathogenic for lysosomal glycogen storage disease by MGZ Medical Genetics Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.525del (p.Glu176fs)	rs386834235	0.00019
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	rs140826989	0.00004
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	rs786204645	0.00001
NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)	rs765718882	0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312

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