ClinVar Miner

List of variants studied for ataxia-telangiectasia-like disorder 1 by Institute of Human Genetics, Klinikum rechts der Isar

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
GRCh37/hg19 11q21(chr11:94153291-94170401)
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898

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.