List of variants reported as pathogenic for carbohydrate metabolism disease by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)
NM_006516.4(SLC2A1):c.1043_1044insT (p.Ile349fs)	rs2124447951
NM_006516.4(SLC2A1):c.1350_1351del (p.Phe450fs)	rs2124445519
NM_006516.4(SLC2A1):c.161dup (p.Ser55fs)
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
NM_016302.4(CRBN):c.129dup (p.Pro44fs)	rs1707782133
NM_198586.3(NHLRC1):c.560A>C (p.His187Pro)

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