List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.1286A>G (p.Tyr429Cys)	rs201741770	0.00011
NM_000255.4(MMUT):c.422C>T (p.Ala141Val)	rs565348836	0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818	0.00001
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe)	rs1164271240
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)	rs121918258

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