ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Elsea Laboratory, Baylor College of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033

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