ClinVar Miner

List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134

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