List of variants reported as pathogenic for carbohydrate metabolism disease by Dept of Medical Genetics, AP-HP Sorbonne University, Pitié-Salpêtrière hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000162.5(GCK):c.208G>A (p.Glu70Lys)	rs2128823091
NM_000162.5(GCK):c.679G>A (p.Gly227Ser)
NM_000162.5(GCK):c.680-6C>G

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