ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
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.231G>A (p.Ala77=) rs144230304
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.1567A>G (p.Ser523Gly) rs1459143051
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.940G>A (p.Ala314Thr) rs2112438294

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