List of variants studied for carbohydrate metabolism disease by Centre for Inherited Metabolic Diseases, Karolinska University Hospital

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000199.5(SGSH):c.734G>A (p.Arg245His)	rs104894635	0.00039
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)	rs76917243	0.00030
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)	rs104894636	0.00021
NM_152419.3(HGSNAT):c.1622C>T (p.Ser541Leu)	rs756310864	0.00004
NM_000199.5(SGSH):c.364G>A (p.Gly122Arg)	rs761607612	0.00002
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)	rs371429653	0.00002
NM_000512.5(GALNS):c.1012C>T (p.Gln338Ter)	rs767131589	0.00001
NM_000512.5(GALNS):c.1240C>T (p.Gln414Ter)	rs757870208	0.00001
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)	rs371807951	0.00001
NM_000545.8(HNF1A):c.599G>A (p.Arg200Gln)	rs893256143	0.00001
NM_000162.5(GCK):c.245C>T (p.Thr82Ile)
NM_000292.3(PHKA2):c.2746C>T (p.Arg916Trp)	rs1569297427
NM_000642.3(AGL):c.1083-1G>A
NM_001040716.2(PC):c.1513+1G>A	rs1358550062
NM_006721.4(ADK):c.953C>A (p.Ala318Glu)	rs397514452

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