List of variants studied for carbohydrate metabolism disease by Myelin Disorders Clinic-Children's Medical Center/Medical Genetics Lab-Tarbiat Modares University, Children's Medical Center, Pediatrics Center of Excellence,

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.175C>T (p.Arg59Cys)	rs104893687	0.00001
NM_000147.5(FUCA1):c.215G>A (p.Trp72Ter)	rs1639662981
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)	rs779017131
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)	rs753232669
NM_000147.5(FUCA1):c.82del (p.Val28fs)	rs1639666186
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)	rs1744708135
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)	rs1768948534
NM_014026.6(DCPS):c.918G>C (p.Glu306Asp)	rs1215363009

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