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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg)	rs119103212	0.00006
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_020166.5(MCCC1):c.137-2A>G	rs727504006	0.00002
NM_020166.5(MCCC1):c.639+5G>T	rs768630906	0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter)	rs185741664	0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00002
NM_020166.5(MCCC1):c.640-2A>G	rs772395858	0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs)	rs1714102462
NM_020166.5(MCCC1):c.640-1G>A	rs727504005
NM_020166.5(MCCC1):c.90-1G>C	rs1718608300
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs)	rs2112412398

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