ClinVar Miner

List of variants reported as likely pathogenic for 3-methylcrotonyl CoA carboxylase 2 deficiency

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Total variants: 5
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HGVS dbSNP
NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.4(MCCC2):c.1216+2T>C rs1554138265
NM_022132.4(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.4(MCCC2):c.463C>T (p.Arg155Trp)
NM_022132.4(MCCC2):c.568C>T (p.His190Tyr) rs773774134

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