ClinVar Miner

List of variants in gene MCCC2 reported as benign for classic organic aciduria

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*1573C>G rs112693079
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.*593G>T rs60069076
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
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.904-12A>G rs277984
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062

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