ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase 1 deficiency by Pars Genome Lab

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1978-57G>T rs6786878 0.93515
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.369+96C>T rs6806083 0.54906
NM_020166.5(MCCC1):c.1594+39T>C rs2270969 0.06776
NM_020166.5(MCCC1):c.1681+77C>T rs75187429 0.06766
NM_020166.5(MCCC1):c.874-95A>G rs144420749 0.00788
NM_020166.5(MCCC1):c.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604

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