List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 14

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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.295G>C (p.Glu99Gln)	rs119103219	0.00014
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)	rs119103213	0.00008
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter)	rs544349961	0.00005
NM_020166.5(MCCC1):c.1526del (p.Cys509fs)	rs727504002	0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter)	rs905321122	0.00003
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter)	rs1484347924	0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter)	rs750484977	0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs)	rs796051985
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs)	rs762463137
NM_020166.5(MCCC1):c.558del (p.Gln186fs)	rs1212517901
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter)	rs150862707
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	rs587776533

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