List of variants reported as pathogenic for carbohydrate metabolism disease by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	rs121907943	0.00063
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)	rs794727774
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)	rs606231189
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)	rs2034113963
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs)	rs878853161

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