List of variants reported as pathogenic for carbohydrate metabolism disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 26

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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_000035.4(ALDOB):c.448G>C (p.Ala150Pro)	rs1800546	0.00319
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)	rs5030868	0.00028
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)	rs121964990	0.00016
NM_012434.5(SLC17A5):c.406A>G (p.Lys136Glu)	rs80338795	0.00007
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)	rs144731405	0.00004
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)	rs774393243	0.00002
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu)	rs770053354	0.00002
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)	rs786205673	0.00001
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)	rs76645461	0.00001
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys)	rs775685508	0.00001
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	rs34116584
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter)	rs765711776
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	rs1221156663
NM_000155.4(GALT):c.650T>C (p.Leu217Pro)	rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val)	rs1553684545
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)	rs888909415
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)	rs760300454
NM_001164277.2(SLC37A4):c.985+1G>A	rs1943553565
NM_006755.2(TALDO1):c.793del (p.Gln265fs)	rs727502867
NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)	rs1554486894
NM_017721.5(CC2D1A):c.748+1G>T	rs876657679
NM_017755.6(NSUN2):c.1020del (p.Gly341fs)	rs1579368865

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