List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Natera, Inc.

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Total variants: 7

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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.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)	rs147903984
NM_022132.5(MCCC2):c.512-1G>A	rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs)	rs587776533
NM_022132.5(MCCC2):c.735dup (p.Val247fs)	rs770769655
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg)	rs119103221

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