List of variants studied for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 8

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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.1147A>T (p.Lys383Ter)
NM_022132.5(MCCC2):c.1151del
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter)	rs2112251855
NM_022132.5(MCCC2):c.1511C>T (p.Ala504Val)
NM_022132.5(MCCC2):c.170A>G (p.His57Arg)
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)	rs760881963
NM_022132.5(MCCC2):c.224A>G (p.His75Arg)

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