List of variants reported as likely pathogenic for carbohydrate metabolism disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)	rs141976414	0.00080
NM_000152.5(GAA):c.1309C>T (p.Arg437Cys)	rs770610356	0.00004
NM_002591.4(PCK1):c.961+1G>A	rs776767788	0.00002
NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)	rs748872992	0.00001
NM_003477.3(PDHX):c.1292T>C (p.Val431Ala)	rs756023441	0.00001
NM_000152.5(GAA):c.1194+5G>A	rs2039153749
NM_000152.5(GAA):c.461G>C (p.Arg154Pro)	rs781124934
NM_000262.3(NAGA):c.759+1_759+8del	rs768761898
NM_000284.4(PDHA1):c.57+2531T>C	rs2063135938
NM_000284.4(PDHA1):c.615C>G (p.Phe205Leu)	rs137853254
NM_000545.8(HNF1A):c.1624-2A>G	rs1877309778
NM_001040716.2(PC):c.3306dup (p.Lys1103fs)	rs1324931037
NM_002637.4(PHKA1):c.678_684del (p.Val227fs)	rs2053626907
NM_002863.5(PYGL):c.2177+2T>C	rs1368182301
NM_006859.4(LIAS):c.643del (p.Asp215fs)	rs1744806313
NM_014806.5(RUSC2):c.2773C>T (p.Arg925Ter)	rs765514069
NM_020374.4(C12orf4):c.1200_1201insGT (p.Lys401fs)	rs1943353362
NM_031229.4(RBCK1):c.582+1G>A	rs1017046170

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