ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Fulgent Genetics,Fulgent Genetics

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Total variants: 7
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NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834

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