ClinVar Miner

List of variants reported as likely benign for ataxia-telangiectasia-like disorder 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
Download table as spreadsheet
HGVS dbSNP
NM_005590.4(MRE11):c.*1743dup rs200848216
NM_005590.4(MRE11):c.1098+8C>A rs749039246
NM_005590.4(MRE11):c.1099-4del rs1060504340
NM_005590.4(MRE11):c.120C>T (p.Leu40=) rs1805364
NM_005590.4(MRE11):c.1226-12_1226-10del rs749464445
NM_005590.4(MRE11):c.138T>C (p.Leu46=) rs863224402
NM_005590.4(MRE11):c.1784-9del rs770953646
NM_005590.4(MRE11):c.1843-9C>A rs1060504336
NM_005590.4(MRE11):c.402+10G>A rs1060504337
NM_005590.4(MRE11):c.403-6_403-5delinsAT rs1555015255
NM_005590.4(MRE11):c.405A>T (p.Ala135=) rs878854778
NM_005591.3(MRE11):c.*189G>A rs151287483
NM_005591.3(MRE11):c.*2444A>G rs369336016
NM_005591.3(MRE11):c.*628G>A rs142407545
NM_005591.3(MRE11):c.*997A>G rs149208652
NM_005591.3(MRE11):c.1002C>T (p.Ser334=) rs115244417
NM_005591.3(MRE11):c.1074A>G (p.Pro358=) rs876659934
NM_005591.3(MRE11):c.1086T>C (p.Leu362=) rs786201488
NM_005591.3(MRE11):c.108G>A (p.Thr36=) rs763003456
NM_005591.3(MRE11):c.1090C>A (p.Arg364=) rs371077728
NM_005591.3(MRE11):c.1096C>A (p.Arg366=) rs372411821
NM_005591.3(MRE11):c.1107T>C (p.Tyr369=) rs781643712
NM_005591.3(MRE11):c.1131T>C (p.Ser377=) rs878854775
NM_005591.3(MRE11):c.1191T>C (p.His397=) rs759856523
NM_005591.3(MRE11):c.1203T>C (p.His401=) rs747556655
NM_005591.3(MRE11):c.121G>A (p.Asp41Asn) rs116679717
NM_005591.3(MRE11):c.1225+8A>T rs748847974
NM_005591.3(MRE11):c.1226-5T>C rs1555009952
NM_005591.3(MRE11):c.1233G>A (p.Glu411=) rs748756180
NM_005591.3(MRE11):c.1275A>C (p.Thr425=) rs749712745
NM_005591.3(MRE11):c.1317C>T (p.Thr439=) rs766548747
NM_005591.3(MRE11):c.1338C>G (p.Leu446=) rs864622577
NM_005591.3(MRE11):c.1341A>T (p.Ser447=) rs762323327
NM_005591.3(MRE11):c.1374A>G (p.Val458=) rs201110281
NM_005591.3(MRE11):c.1404T>C (p.Asp468=) rs368144567
NM_005591.3(MRE11):c.1413G>A (p.Glu471=) rs560102780
NM_005591.3(MRE11):c.141C>T (p.Ala47=) rs786203586
NM_005591.3(MRE11):c.1443A>C (p.Thr481=) rs375077574
NM_005591.3(MRE11):c.1443A>G (p.Thr481=) rs375077574
NM_005591.3(MRE11):c.1476C>T (p.Ala492=) rs370397034
NM_005591.3(MRE11):c.1491C>T (p.Ile497=) rs199634245
NM_005591.3(MRE11):c.154-5A>T rs775280657
NM_005591.3(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.3(MRE11):c.1564-7C>T rs863224403
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.3(MRE11):c.1727G>A (p.Arg576Gln) rs139461096
NM_005591.3(MRE11):c.1758G>A (p.Ser586=) rs766372720
NM_005591.3(MRE11):c.1780A>G (p.Arg594Gly) rs576878377
NM_005591.3(MRE11):c.1783+10G>C rs864622589
NM_005591.3(MRE11):c.1783+7A>G rs774520952
NM_005591.3(MRE11):c.1784-6T>C rs978608099
NM_005591.3(MRE11):c.1798G>C (p.Glu600Gln) rs145415033
NM_005591.3(MRE11):c.1868-4C>A rs768257868
NM_005591.3(MRE11):c.1868-7A>G rs761270600
NM_005591.3(MRE11):c.1882A>C (p.Arg628=) rs1411087205
NM_005591.3(MRE11):c.1902T>C (p.Asn634=) rs864622320
NM_005591.3(MRE11):c.1920T>C (p.Tyr640=) rs1299953525
NM_005591.3(MRE11):c.1923A>G (p.Ser641=) rs746938043
NM_005591.3(MRE11):c.1935G>A (p.Glu645=) rs1060504338
NM_005591.3(MRE11):c.20+8C>A rs766581183
NM_005591.3(MRE11):c.201C>T (p.Pro67=) rs146811574
NM_005591.3(MRE11):c.2028C>T (p.Ser676=) rs876660252
NM_005591.3(MRE11):c.2043G>A (p.Ser681=) rs876659873
NM_005591.3(MRE11):c.2049G>A (p.Gly683=) rs758931835
NM_005591.3(MRE11):c.2052T>C (p.Val684=) rs367767415
NM_005591.3(MRE11):c.2070+14A>C rs369127675
NM_005591.3(MRE11):c.21-9T>C rs1060504339
NM_005591.3(MRE11):c.2115A>G (p.Arg705=) rs786201174
NM_005591.3(MRE11):c.228C>T (p.Leu76=) rs748605250
NM_005591.3(MRE11):c.267C>G (p.Val89=) rs759547024
NM_005591.3(MRE11):c.291G>A (p.Gln97=) rs776642337
NM_005591.3(MRE11):c.303T>C (p.Phe101=) rs786201176
NM_005591.3(MRE11):c.315-4T>A rs878854777
NM_005591.3(MRE11):c.315-4del rs35062043
NM_005591.3(MRE11):c.33C>T (p.Asn11=) rs746088302
NM_005591.3(MRE11):c.363A>C (p.Pro121=) rs749735066
NM_005591.3(MRE11):c.37T>A (p.Phe13Ile) rs149101834
NM_005591.3(MRE11):c.390C>T (p.Asp130=) rs770469403
NM_005591.3(MRE11):c.414T>C (p.Leu138=) rs878854779
NM_005591.3(MRE11):c.426C>T (p.Asp142=) rs3218740
NM_005591.3(MRE11):c.432A>G (p.Leu144=) rs370709772
NM_005591.3(MRE11):c.444A>G (p.Gly148=) rs778608572
NM_005591.3(MRE11):c.492T>C (p.Ile164=) rs764342779
NM_005591.3(MRE11):c.498G>A (p.Pro166=) rs753061100
NM_005591.3(MRE11):c.531G>A (p.Ala177=) rs376621889
NM_005591.3(MRE11):c.597A>G (p.Thr199=) rs1555014527
NM_005591.3(MRE11):c.618T>C (p.Asp206=) rs786201438
NM_005591.3(MRE11):c.660-5T>G rs587781873
NM_005591.3(MRE11):c.681C>T (p.Asn227=) rs1490100562
NM_005591.3(MRE11):c.690A>G (p.Pro230=) rs786203787
NM_005591.3(MRE11):c.717T>C (p.Asp239=) rs863224404
NM_005591.3(MRE11):c.753A>C (p.Ile251=) rs544844010
NM_005591.3(MRE11):c.771A>G (p.Glu257=) rs13447632
NM_005591.3(MRE11):c.777G>A (p.Gln259=) rs774144789
NM_005591.3(MRE11):c.801A>G (p.Gly267=) rs769856404
NM_005591.3(MRE11):c.822T>C (p.Leu274=) rs137868143
NM_005591.3(MRE11):c.840A>G (p.Val280=) rs786201550
NM_005591.3(MRE11):c.845+11T>C rs140145979
NM_005591.3(MRE11):c.845+7G>A rs767339664
NM_005591.3(MRE11):c.855T>C (p.Gly285=) rs864622478
NM_005591.3(MRE11):c.873G>A (p.Gly291=) rs773384135
NM_005591.3(MRE11):c.879G>A (p.Lys293=) rs772483607
NM_005591.3(MRE11):c.912G>A (p.Val304=) rs746675755
NM_005591.3(MRE11):c.924C>T (p.Phe308=) rs138595973
NM_005591.3(MRE11):c.940C>T (p.Leu314=) rs368362407
NM_005591.3(MRE11):c.942A>G (p.Leu314=) rs1555012700
NM_005591.3(MRE11):c.969A>G (p.Pro323=) rs13447633
NM_005591.3(MRE11):c.999A>G (p.Gln333=) rs747898039
NM_005591.4(MRE11):c.1014G>A (p.Glu338=) rs1591692367
NM_005591.4(MRE11):c.1056G>C (p.Leu352=) rs1223095392
NM_005591.4(MRE11):c.1098+10A>G
NM_005591.4(MRE11):c.117A>C (p.Thr39=)
NM_005591.4(MRE11):c.1188C>T (p.Ile396=)
NM_005591.4(MRE11):c.1225+9G>C rs779810776
NM_005591.4(MRE11):c.1308C>T (p.Tyr436=)
NM_005591.4(MRE11):c.1327-7C>T
NM_005591.4(MRE11):c.1327-9A>G rs766573839
NM_005591.4(MRE11):c.1383T>C (p.Phe461=)
NM_005591.4(MRE11):c.1392G>A (p.Lys464=)
NM_005591.4(MRE11):c.1398G>A (p.Glu466=) rs959415369
NM_005591.4(MRE11):c.1417T>C (p.Leu473=)
NM_005591.4(MRE11):c.1434G>A (p.Leu478=) rs1591672412
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005591.4(MRE11):c.1501-8T>C rs753131403
NM_005591.4(MRE11):c.1560T>C (p.Arg520=) rs1333614213
NM_005591.4(MRE11):c.1563+10C>T
NM_005591.4(MRE11):c.1564-10T>C rs1591655511
NM_005591.4(MRE11):c.1674T>C (p.Ser558=)
NM_005591.4(MRE11):c.174T>C (p.Gly58=)
NM_005591.4(MRE11):c.180T>C (p.Asp60=) rs1213393080
NM_005591.4(MRE11):c.18A>G (p.Ala6=)
NM_005591.4(MRE11):c.1908T>A (p.Thr636=)
NM_005591.4(MRE11):c.1956A>G (p.Glu652=) rs1591640926
NM_005591.4(MRE11):c.1995-25TGTTTT[2]
NM_005591.4(MRE11):c.2064A>G (p.Ser688=) rs1591633817
NM_005591.4(MRE11):c.246T>C (p.Tyr82=) rs1591719043
NM_005591.4(MRE11):c.314+10T>G rs1591718805
NM_005591.4(MRE11):c.429T>C (p.Ile143=)
NM_005591.4(MRE11):c.489C>T (p.Asp163=) rs757344068
NM_005591.4(MRE11):c.498G>T (p.Pro166=)
NM_005591.4(MRE11):c.567C>G (p.Leu189=)
NM_005591.4(MRE11):c.660-7G>T
NM_005591.4(MRE11):c.711C>T (p.Phe237=)
NM_005591.4(MRE11):c.810G>C (p.Val270=)
NM_005591.4(MRE11):c.845+8T>C
NM_005591.4(MRE11):c.930G>A (p.Glu310=) rs1399320806

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.