ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_022132.5(MCCC2):c.1189C>G (p.Pro397Ala) rs2112463755

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