ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589 0.58978
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384 0.58567
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00476
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036

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