List of variants reported as pathogenic for carbohydrate metabolism disease by Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000046.5(ARSB):c.979C>T (p.Arg327Ter)	rs773492223
NM_000162.5(GCK):c.45+1G>T	rs781260712
NM_000507.4(FBP1):c.1_170del (p.Met1fs)	rs1563991556
NM_000512.5(GALNS):c.1000C>T (p.Gln334Ter)	rs1567526805
NM_000642.3(AGL):c.3481_3589-407del

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