ClinVar Miner

List of variants reported as benign for 3-methylcrotonyl-CoA carboxylase deficiency by Pars Genome Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
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_022132.5(MCCC2):c.1489-111T>G rs6888301 0.87181
NM_022132.5(MCCC2):c.1574+73G>A rs2242372 0.86888
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.738+36G>A rs12516456 0.80685
NM_022132.5(MCCC2):c.1575-64A>G rs7443786 0.70690
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_022132.5(MCCC2):c.803+71C>T rs277981 0.41609
NM_022132.5(MCCC2):c.739-92G>A rs277980 0.41598
NM_022132.5(MCCC2):c.1488+103G>C rs169406 0.35280
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
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.1732-208T>C rs2108441955
NM_020166.5(MCCC1):c.1978-86A>C rs2292056
NM_020166.5(MCCC1):c.273+53A>C rs3732604
NM_022132.5(MCCC2):c.-117A>G rs11746722
NM_022132.5(MCCC2):c.1488+113G>A rs182191

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.