ClinVar Miner

List of variants reported as likely pathogenic for amyotrophic lateral sclerosis type 12 by Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs) rs1833438306
NM_001008212.2(OPTN):c.1400A>C (p.Gln467Pro) rs2131520977
NM_001008212.2(OPTN):c.875dup (p.Glu293fs) rs1833371664

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.