List of variants reported as pathogenic for carbohydrate metabolism disease by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000402.4(G6PD):c.292G>A (p.Val98Met)	rs1050828	0.03616
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)	rs587776542	0.00004
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)	rs1244655820	0.00001
NM_000027.4(AGA):c.216del (p.Ser72_Val73insTer)	rs1560950739
NM_000030.3(AGXT):c.33dup (p.Lys12fs)	rs180177201
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	rs773492223
NM_000528.4(MAN2B1):c.1203C>G (p.Tyr401Ter)	rs781291011
NM_001136035.4(TRMT1):c.1834-7C>T
NM_001136035.4(TRMT1):c.657_688del (p.Gln219fs)	rs746572548
NM_024298.5(MBOAT7):c.604G>C (p.Gly202Arg)

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