List of variants reported as pathogenic for carbohydrate metabolism disease by Center of Genomic medicine, Geneva, University Hospital of Geneva

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000158.4(GBE1):c.785G>A (p.Arg262His)	rs369574719	0.00006
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)	rs137852893	0.00001
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)	rs863224147
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)	rs28936678
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)	rs121909734
NM_005908.4(MANBA):c.692G>A (p.Trp231Ter)
NM_006516.4(SLC2A1):c.1033_1042del (p.Ala345fs)	rs1553155973
NM_006516.4(SLC2A1):c.388G>A (p.Gly130Ser)	rs80359819
NM_006516.4(SLC2A1):c.844_855del (p.Gln282_Ser285del)	rs1553156047

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