ClinVar Miner

List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Illumina Laboratory Services, Illumina

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)	rs148773718	0.00015
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001

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