ClinVar Miner

List of variants reported as likely benign for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome by Genome-Nilou Lab

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_032861.4(SERAC1):c.1308+7G>A rs201873667 0.00040
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_032861.4(SERAC1):c.1828+10C>G rs374374755 0.00027
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_032861.4(SERAC1):c.1403+11C>T rs369586400 0.00008
NM_032861.4(SERAC1):c.266-11A>G rs574469098 0.00002
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1502-24dup rs780420200
NM_032861.4(SERAC1):c.98TAA[1] (p.Ile34del) rs754630732

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.