ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Genetics and Prenatal Diagnosis Center, The First Affiliated Hospital of Zhengzhou University

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001

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