ClinVar Miner

List of variants studied for Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome by Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005559.4(LAMA1):c.2808+5G>A rs201030108 0.00089
NM_005559.4(LAMA1):c.7195+2T>A
NM_005559.4(LAMA1):c.8737del (p.Asp2913fs) rs776769192

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.