List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu)	rs752866557	0.00004
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)	rs141030969	0.00002
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)	rs119103220	0.00001
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr)	rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs)	rs2112412398

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