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

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Total variants: 12

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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.1065A>T (p.Leu355Phe)	rs757052602	0.00011
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00002
NM_020166.5(MCCC1):c.640-2A>G	rs772395858	0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs)	rs748269732	0.00001
NM_022132.5(MCCC2):c.383+2del	rs1745349463	0.00001
NM_020166.5(MCCC1):c.1074del (p.Trp358fs)	rs398124350
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.1943_1944dup (p.Pro649fs)	rs2108437770
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)	rs746267545
NM_020166.5(MCCC1):c.382G>T (p.Gly128Ter)	rs2108528645
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)	rs758794885

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