List of variants in gene MCCC2 reported as benign for 3-methylcrotonyl-CoA carboxylase 2 deficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 30

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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.738+36G>A	rs12516456	0.80304
NM_022132.5(MCCC2):c.*247C>T	rs1135667	0.78164
NM_022132.5(MCCC2):c.1575-64A>G	rs7443786	0.69711
NM_022132.5(MCCC2):c.803+71C>T	rs277981	0.41735
NM_022132.5(MCCC2):c.739-92G>A	rs277980	0.41731
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.282-7G>A	rs115078899	0.00399
NM_022132.5(MCCC2):c.969T>C (p.Ala323=)	rs112793062	0.00228
NM_022132.5(MCCC2):c.1217-7C>G	rs148369119	0.00171
NM_022132.5(MCCC2):c.*1466T>C	rs148015309	0.00143
NM_022132.5(MCCC2):c.450G>C (p.Val150=)	rs151098534	0.00121
NM_022132.5(MCCC2):c.511+7dup	rs200382661	0.00068
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)	rs559384926	0.00041
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)	rs137961577	0.00003
NM_022132.5(MCCC2):c.1373+18C>T	rs200716557	0.00002
NM_022132.5(MCCC2):c.330C>T (p.Asp110=)	rs201872484	0.00001
NM_022132.5(MCCC2):c.-117A>G	rs11746722
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)	rs371587906
NM_022132.5(MCCC2):c.1488+103G>C	rs169406
NM_022132.5(MCCC2):c.1488+113G>A	rs182191
NM_022132.5(MCCC2):c.1489-111T>G	rs6888301
NM_022132.5(MCCC2):c.1574+73G>A	rs2242372
NM_022132.5(MCCC2):c.1574+7dup
NM_022132.5(MCCC2):c.1575-15_1575-14del

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