ClinVar Miner

List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1511C>T (p.Ala504Val)
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
NM_022132.5(MCCC2):c.224A>G (p.His75Arg)

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