List of variants reported as pathogenic for Glycogen storage disease, type II by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	rs780321415	0.00003
NM_000152.5(GAA):c.118C>T (p.Arg40Ter)	rs767409395	0.00001
NM_000152.5(GAA):c.1556T>C (p.Met519Thr)	rs786204720	0.00001
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	rs786204645	0.00001
NM_000152.5(GAA):c.1003G>A (p.Gly335Arg)	rs202095215
NM_000152.5(GAA):c.2702T>A (p.Leu901Gln)	rs2510404334
NM_000152.5(GAA):c.844G>C (p.Asp282His)	rs1264889089

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