List of variants reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Genome-Nilou Lab

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)	rs750965429	0.00004
NM_022132.5(MCCC2):c.1196T>A (p.Leu399Gln)	rs2112463776
NM_022132.5(MCCC2):c.1554C>A (p.Asn518Lys)	rs2112472855
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr)	rs2112438294

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