List of variants reported as pathogenic for disorder of glycogen metabolism by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)	rs373345919	0.00003
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter)	rs781784543	0.00002
NM_000642.3(AGL):c.595C>T (p.Gln199Ter)	rs780694207	0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	rs1800312
NM_000642.3(AGL):c.118C>T (p.Gln40Ter)	rs771961377
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)	rs193302903

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