ClinVar Miner

List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Genome-Nilou Lab

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Total variants: 9
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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.711A>G (p.Pro237=) rs138085432 0.00930
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00476
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217 0.00036
NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser) rs1196513317 0.00002
NM_000255.4(MMUT):c.422C>T (p.Ala141Val) rs565348836 0.00001
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
NM_000255.4(MMUT):c.733A>G (p.Ile245Val) rs754464973

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