List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)	rs150591260	0.00057
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)	rs544349961	0.00005
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg)	rs765438239	0.00001
NM_020166.5(MCCC1):c.558del (p.Gln186fs)	rs1212517901
NM_022132.5(MCCC2):c.1131_1132del (p.Phe377_Ser378insTer)
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	rs752593298
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp)	rs766753795

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