List of variants studied for carbohydrate metabolism disease by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)	rs1050829	0.08672
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	rs2070074	0.07150
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00384
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	rs75391579	0.00192
NM_000402.4(G6PD):c.934G>C (p.Asp312His)	rs137852318	0.00072
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	rs121965020	0.00063
NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	rs199801029	0.00008
NM_000181.4(GUSB):c.1069C>T (p.Arg357Ter)	rs121918185	0.00002
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser)	rs80356482
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	rs121918195

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