List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Revvity Omics, Revvity

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Total variants: 4

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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.994C>T (p.Arg332Ter)	rs727504010	0.00001
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)	rs752593298

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