ClinVar Miner

List of variants in gene MMUT reported as benign for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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Total variants: 14
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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.1083+57C>T rs7769646 0.37023
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_000255.4(MMUT):c.1333-185A>G rs4715130 0.30091
NM_000255.4(MMUT):c.*1326G>A rs9381784 0.29445
NM_000255.4(MMUT):c.1676+77A>C rs9381786 0.21722
NM_000255.4(MMUT):c.912-110C>T rs9369901 0.20713
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000255.4(MMUT):c.*580A>G rs11757098 0.10433
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856 0.00479
NM_000255.4(MMUT):c.1677-164A>T rs9463483
NM_000255.4(MMUT):c.912-138C>T rs9395492

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