ClinVar Miner

List of variants studied for Methylmalonyl-CoA epimerase deficiency

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Total variants: 25
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HGVS dbSNP
NC_000002.12:g.(?_71109950)_(71130239_?)del
NM_032601.4(MCEE):c.*262G>A rs72903553
NM_032601.4(MCEE):c.*64A>C
NM_032601.4(MCEE):c.102C>G (p.Pro34=) rs146573280
NM_032601.4(MCEE):c.10G>T (p.Val4Leu) rs202194538
NM_032601.4(MCEE):c.120T>C (p.Gly40=) rs373053776
NM_032601.4(MCEE):c.136G>A (p.Gly46Ser) rs772033573
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
NM_032601.4(MCEE):c.178A>C (p.Lys60Gln) rs147401037
NM_032601.4(MCEE):c.180G>A (p.Lys60=) rs778261717
NM_032601.4(MCEE):c.227C>T (p.Ala76Val) rs11541017
NM_032601.4(MCEE):c.235C>G (p.Leu79Val) rs369078225
NM_032601.4(MCEE):c.271C>A (p.Leu91Met) rs200681141
NM_032601.4(MCEE):c.311G>A (p.Arg104His) rs6748672
NM_032601.4(MCEE):c.311G>T (p.Arg104Leu) rs6748672
NM_032601.4(MCEE):c.312T>G (p.Arg104=) rs142838031
NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)
NM_032601.4(MCEE):c.368T>A (p.Ile123Asn) rs886056277
NM_032601.4(MCEE):c.41-13T>A
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961
NM_032601.4(MCEE):c.428G>A (p.Arg143His) rs115175255
NM_032601.4(MCEE):c.440A>G (p.Glu147Gly)
NM_032601.4(MCEE):c.520G>C (p.Glu174Gln) rs200334627
NM_032601.4(MCEE):c.66C>T (p.Pro22=)

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