List of variants reported as uncertain significance for carbohydrate metabolism disease by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)	rs768180795	0.00005
NM_018297.4(NGLY1):c.962G>A (p.Arg321Gln)	rs751720023	0.00001
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)	rs1337100943
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)	rs1434209913
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)
NM_000512.5(GALNS):c.121-7C>G	rs1004936255
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)	rs140892695
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)	rs387906471
NM_024989.4(PGAP1):c.2286+5G>A	rs937847069
NM_145262.4(GLYCTK):c.425C>T (p.Ala142Val)
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)

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