List of variants reported as likely pathogenic for carbohydrate metabolism disease by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000151.4(G6PC1):c.648G>T (p.Leu216=)	rs80356484	0.00002
NM_001008216.2(GALE):c.715C>T (p.Arg239Trp)	rs137853860	0.00001
NM_000263.4(NAGLU):c.1694G>C (p.Arg565Pro)	rs104894598

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