List of variants reported as pathogenic for carbohydrate metabolism disease by Knight Diagnostic Laboratories, Oregon Health and Sciences University

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)	rs121965019	0.00086
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000152.5(GAA):c.525del (p.Glu176fs)	rs386834235	0.00019
NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)	rs121908524	0.00016
NM_012434.5(SLC17A5):c.918T>G (p.Tyr306Ter)	rs201284672	0.00013
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)	rs104894637	0.00011
NM_000152.5(GAA):c.546G>A (p.Thr182=)	rs143523371	0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)	rs104893950	0.00003
NM_000642.3(AGL):c.18_19del (p.Gln6fs)	rs113994127

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