List of variants reported as likely pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory,Seoul National University Hospital

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Total variants: 3

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HGVS	dbSNP
NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)	rs1601747985
NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)	rs1601776276
NM_000294.3(PHKG2):c.661G>A (p.Val221Met)	rs1596687577

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