ClinVar Miner

List of variants in gene combination LOC129938008, MCCC1 reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (3):

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

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.1A>G (p.Met1Val)	rs762463914	0.00004
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)	rs776254500

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