ClinVar Miner

List of variants reported as benign for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.282-7G>A rs115078899
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062

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