List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by OMIM

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)	rs119103219	0.00014
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val)	rs119103224	0.00004
NM_022132.5(MCCC2):c.1574+1G>A	rs730880265	0.00002
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg)	rs119103222	0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr)	rs119103226	0.00001
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	rs587776533
NM_022132.5(MCCC2):c.569A>G (p.His190Arg)	rs119103225
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr)	rs119103223
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221

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