ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00003
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter) rs1376550081 0.00001
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540 0.00001
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter) rs1440482403 0.00001
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter) rs1215450873 0.00001
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter) rs137852759 0.00001
NC_000011.10:g.(?_94470461)_(94492811_?)del
NC_000011.9:g.(?_94153291)_(94225967_?)del
NC_000011.9:g.(?_94168988)_(94170411_?)del
NC_000011.9:g.(?_94180375)_(94180614_?)del
NM_005591.4(MRE11):c.1047_1048del (p.Glu350fs) rs1591688367
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter) rs371077728
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter)
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.4(MRE11):c.1280dup (p.Leu427fs)
NM_005591.4(MRE11):c.1326+1del rs1946397259
NM_005591.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) rs1245161888
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)
NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter)
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter) rs779269083
NM_005591.4(MRE11):c.295_298del (p.Val99fs) rs1555017184
NM_005591.4(MRE11):c.422dup (p.Leu141fs)
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) rs786202253
NM_005591.4(MRE11):c.552del (p.Pro185fs) rs1946857788
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter) rs1157413766
NM_005591.4(MRE11):c.664A>T (p.Lys222Ter) rs371455048
NM_005591.4(MRE11):c.739dup (p.His247fs) rs786203931
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.