ClinVar Miner

List of variants in gene MCEE reported as uncertain significance for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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HGVS dbSNP
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.136G>A (p.Gly46Ser) rs772033573
NM_032601.4(MCEE):c.164T>C (p.Val55Ala)
NM_032601.4(MCEE):c.226_227delinsAT (p.Ala76Met)
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.312T>G (p.Arg104=) rs142838031
NM_032601.4(MCEE):c.345C>A (p.Asn115Lys)
NM_032601.4(MCEE):c.352G>C (p.Gly118Arg)
NM_032601.4(MCEE):c.368T>A (p.Ile123Asn) rs886056277
NM_032601.4(MCEE):c.376G>A (p.Glu126Lys)
NM_032601.4(MCEE):c.3G>A (p.Met1Ile)
NM_032601.4(MCEE):c.41-9A>G
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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