List of variants studied for carbohydrate metabolism disease by Center for Molecular Medicine, Children’s Hospital of Fudan University

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)	rs757653154	0.00022
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	rs28940868	0.00004
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn)	rs758609113	0.00002
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser)	rs121918188	0.00001
NM_000507.4(FBP1):c.778G>A (p.Gly260Arg)	rs780803192	0.00001
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)	rs2147178249
NM_000507.4(FBP1):c.333+2T>G
NM_000507.4(FBP1):c.704del (p.Pro235fs)	rs774362519
NM_000507.4(FBP1):c.841G>A (p.Glu281Lys)	rs566453434
NM_001370658.1(BTD):c.1433dup (p.Leu478fs)	rs397514425
NM_006859.4(LIAS):c.1063G>C (p.Ala355Pro)	rs1745058899
NM_006859.4(LIAS):c.587C>A (p.Thr196Asn)	rs1744715983
Single allele

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