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

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_022132.5(MCCC2):c.1406G>A (p.Arg469His)	rs750965429	0.00004
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln)	rs148088842	0.00002
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile)	rs149268368	0.00001
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu)	rs398124352
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)	rs1367329678
NM_020166.5(MCCC1):c.453C>T (p.Gly151=)	rs1716764203
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr)	rs2108526676
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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