ClinVar Miner

List of variants in gene MRE11 reported as likely pathogenic for Ataxia-telangiectasia-like disorder 1

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_94476279)_(94479771_?)del
NM_005590.4(MRE11):c.1500+1153_1563+1027del
NM_005591.3(MRE11):c.1927-1G>T rs1295485913
NM_005591.3(MRE11):c.1927-2A>G rs587781822
NM_005591.3(MRE11):c.659+1G>A rs759130031
NM_005591.3(MRE11):c.77T>C (p.Met26Thr) rs372068015
NM_005591.3(MRE11):c.[168G>T];[497C>T]
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761
NM_005591.4(MRE11):c.818_819CT[1] (p.Leu274fs) rs1565228898
Single allele

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.