ClinVar Miner

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

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026
NM_022132.5(MCCC2):c.1488+10G>A rs190514867
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663

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