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: 8

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HGVS	dbSNP	gnomAD frequency
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
NM_002863.5(PYGL):c.1334T>C (p.Leu445Pro)	rs2050437440
NM_002863.5(PYGL):c.1820G>T (p.Gly607Val)	rs754629447
NM_002863.5(PYGL):c.2084G>A (p.Gly695Glu)	rs2503486792
NM_002863.5(PYGL):c.2483T>G (p.Val828Gly)	rs2503479112
NM_002863.5(PYGL):c.472T>C (p.Tyr158His)	rs2503523725

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