ClinVar Miner

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

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Total variants: 17
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HGVS dbSNP
NM_000255.4(MMUT):c.*1326G>A rs9381784
NM_000255.4(MMUT):c.*580A>G rs11757098
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1676+77A>C rs9381786
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.2196C>T (p.Ala732=) rs201963242
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432

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