ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.*247C>T rs1135667 0.78164
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_022132.5(MCCC2):c.*1198C>T rs277975 0.28389
NM_022132.5(MCCC2):c.*593G>T rs60069076 0.09309
NM_022132.5(MCCC2):c.*1573C>G rs112693079 0.01960
NM_022132.5(MCCC2):c.*1381A>C rs115650149 0.01118
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_022132.5(MCCC2):c.*1466T>C rs148015309 0.00143

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