ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Mendelics

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Total variants: 7
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NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)

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