List of variants reported as pathogenic for carbohydrate metabolism disease by Reproductive Health Research and Development, BGI Genomics

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.-32-13T>G	rs386834236	0.00380
NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)	rs10250779	0.00166
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)	rs76723693	0.00149
NM_002299.4(LCT):c.4170T>A (p.Tyr1390Ter)	rs121908936	0.00070
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)	rs80338794	0.00049
NM_000402.4(G6PD):c.1466G>T (p.Arg489Leu)	rs72554665	0.00046
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)	rs1801175	0.00034
NM_000352.6(ABCC8):c.3989-9G>A	rs151344623	0.00018
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)	rs72554664	0.00017
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)	rs80338671
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)	rs397509360

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