ClinVar Miner

List of variants reported as likely benign for Ataxia-telangiectasia-like disorder by Invitae

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Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00064
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00057
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_005591.4(MRE11):c.2052T>C (p.Val684=) rs367767415 0.00015
NM_005591.4(MRE11):c.2070+14A>C rs369127675 0.00013
NM_005591.4(MRE11):c.681C>T (p.Asn227=) rs1490100562 0.00010
NM_005591.4(MRE11):c.177T>C (p.Gly59=) rs557033848 0.00005
NM_005591.4(MRE11):c.492T>C (p.Ile164=) rs764342779 0.00005
NM_005591.4(MRE11):c.753A>C (p.Ile251=) rs544844010 0.00005
NM_005591.4(MRE11):c.1783+7A>G rs774520952 0.00004
NM_005591.4(MRE11):c.201C>T (p.Pro67=) rs146811574 0.00004
NM_005591.4(MRE11):c.2049G>A (p.Gly683=) rs758931835 0.00004
NM_005591.4(MRE11):c.940C>T (p.Leu314=) rs368362407 0.00004
NM_005591.4(MRE11):c.1098+8C>A rs749039246 0.00003
NM_005591.4(MRE11):c.1317C>T (p.Thr439=) rs766548747 0.00003
NM_005591.4(MRE11):c.1404T>C (p.Asp468=) rs368144567 0.00003
NM_005591.4(MRE11):c.1443A>G (p.Thr481=) rs375077574 0.00003
NM_005591.4(MRE11):c.1902T>C (p.Asn634=) rs864622320 0.00003
NM_005591.4(MRE11):c.2115A>G (p.Arg705=) rs786201174 0.00003
NM_005591.4(MRE11):c.489C>T (p.Asp163=) rs757344068 0.00003
NM_005591.4(MRE11):c.690A>G (p.Pro230=) rs786203787 0.00003
NM_005591.4(MRE11):c.717T>C (p.Asp239=) rs863224404 0.00003
NM_005591.4(MRE11):c.777G>A (p.Gln259=) rs774144789 0.00003
NM_005591.4(MRE11):c.846-12T>C rs587780145 0.00003
NM_005591.4(MRE11):c.999A>G (p.Gln333=) rs747898039 0.00003
NM_005591.4(MRE11):c.1056G>C (p.Leu352=) rs1223095392 0.00002
NM_005591.4(MRE11):c.1191T>C (p.His397=) rs759856523 0.00002
NM_005591.4(MRE11):c.1225+8A>T rs748847974 0.00002
NM_005591.4(MRE11):c.1233G>A (p.Glu411=) rs748756180 0.00002
NM_005591.4(MRE11):c.1758G>A (p.Ser586=) rs766372720 0.00002
NM_005591.4(MRE11):c.1868-7A>G rs761270600 0.00002
NM_005591.4(MRE11):c.2004C>T (p.Ser668=) rs780373370 0.00002
NM_005591.4(MRE11):c.291G>A (p.Gln97=) rs776642337 0.00002
NM_005591.4(MRE11):c.363A>C (p.Pro121=) rs749735066 0.00002
NM_005591.4(MRE11):c.831A>G (p.Gly277=) rs1047206353 0.00002
NM_005591.4(MRE11):c.879G>A (p.Lys293=) rs772483607 0.00002
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_005591.4(MRE11):c.1086T>C (p.Leu362=) rs786201488 0.00001
NM_005591.4(MRE11):c.108G>A (p.Thr36=) rs763003456 0.00001
NM_005591.4(MRE11):c.1107T>C (p.Tyr369=) rs781643712 0.00001
NM_005591.4(MRE11):c.1203T>C (p.His401=) rs747556655 0.00001
NM_005591.4(MRE11):c.1275A>C (p.Thr425=) rs749712745 0.00001
NM_005591.4(MRE11):c.1327-9A>G rs766573839 0.00001
NM_005591.4(MRE11):c.1341A>T (p.Ser447=) rs762323327 0.00001
NM_005591.4(MRE11):c.1350A>G (p.Thr450=) rs876660412 0.00001
NM_005591.4(MRE11):c.1374A>G (p.Val458=) rs201110281 0.00001
NM_005591.4(MRE11):c.1413G>A (p.Glu471=) rs560102780 0.00001
NM_005591.4(MRE11):c.1476C>T (p.Ala492=) rs370397034 0.00001
NM_005591.4(MRE11):c.154-5A>T rs775280657 0.00001
NM_005591.4(MRE11):c.1671C>T (p.Asp557=) rs759466399 0.00001
NM_005591.4(MRE11):c.1783+10G>C rs864622589 0.00001
NM_005591.4(MRE11):c.1784-6T>C rs978608099 0.00001
NM_005591.4(MRE11):c.180T>C (p.Asp60=) rs1213393080 0.00001
NM_005591.4(MRE11):c.1920T>C (p.Tyr640=) rs1299953525 0.00001
NM_005591.4(MRE11):c.20+8C>A rs766581183 0.00001
NM_005591.4(MRE11):c.2043G>A (p.Ser681=) rs876659873 0.00001
NM_005591.4(MRE11):c.246T>C (p.Tyr82=) rs1591719043 0.00001
NM_005591.4(MRE11):c.267C>G (p.Val89=) rs759547024 0.00001
NM_005591.4(MRE11):c.282C>T (p.Leu94=) rs1591718940 0.00001
NM_005591.4(MRE11):c.330C>T (p.Asn110=) rs1555015459 0.00001
NM_005591.4(MRE11):c.339T>C (p.Asp113=) rs201584818 0.00001
NM_005591.4(MRE11):c.33C>T (p.Asn11=) rs746088302 0.00001
NM_005591.4(MRE11):c.390C>T (p.Asp130=) rs770469403 0.00001
NM_005591.4(MRE11):c.402+10G>A rs1060504337 0.00001
NM_005591.4(MRE11):c.432A>G (p.Leu144=) rs370709772 0.00001
NM_005591.4(MRE11):c.444A>G (p.Gly148=) rs778608572 0.00001
NM_005591.4(MRE11):c.498G>A (p.Pro166=) rs753061100 0.00001
NM_005591.4(MRE11):c.609A>C (p.Pro203=) rs755189325 0.00001
NM_005591.4(MRE11):c.801A>G (p.Gly267=) rs769856404 0.00001
NM_005591.4(MRE11):c.840A>G (p.Val280=) rs786201550 0.00001
NM_005591.4(MRE11):c.845+7G>A rs767339664 0.00001
NM_005591.4(MRE11):c.873G>A (p.Gly291=) rs773384135 0.00001
NM_005591.4(MRE11):c.912G>A (p.Val304=) rs746675755 0.00001
NM_005591.4(MRE11):c.930G>A (p.Glu310=) rs1399320806 0.00001
NM_005591.4(MRE11):c.1002C>T (p.Ser334=) rs115244417
NM_005591.4(MRE11):c.1014G>A (p.Glu338=) rs1591692367
NM_005591.4(MRE11):c.1017+18A>C
NM_005591.4(MRE11):c.1090C>A (p.Arg364=) rs371077728
NM_005591.4(MRE11):c.1096C>A (p.Arg366=) rs372411821
NM_005591.4(MRE11):c.1098+10A>G
NM_005591.4(MRE11):c.1098+15T>C
NM_005591.4(MRE11):c.1099-12C>T
NM_005591.4(MRE11):c.1099-4del rs1060504340
NM_005591.4(MRE11):c.1131T>C (p.Ser377=) rs878854775
NM_005591.4(MRE11):c.1176A>G (p.Pro392=) rs876659845
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.1226-12_1226-10del rs749464445
NM_005591.4(MRE11):c.1226-15C>T
NM_005591.4(MRE11):c.1308C>T (p.Tyr436=)
NM_005591.4(MRE11):c.1326+10T>C
NM_005591.4(MRE11):c.1326+12C>G
NM_005591.4(MRE11):c.1327-7C>T
NM_005591.4(MRE11):c.1327-9A>T rs766573839
NM_005591.4(MRE11):c.1338C>G (p.Leu446=) rs864622577
NM_005591.4(MRE11):c.1383T>C (p.Phe461=)
NM_005591.4(MRE11):c.138T>C (p.Leu46=) rs863224402
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.141C>T (p.Ala47=) rs786203586
NM_005591.4(MRE11):c.1434G>A (p.Leu478=) rs1591672412
NM_005591.4(MRE11):c.1443A>C (p.Thr481=) rs375077574
NM_005591.4(MRE11):c.1500+17A>G
NM_005591.4(MRE11):c.1501-11T>C
NM_005591.4(MRE11):c.1501-17A>G
NM_005591.4(MRE11):c.1501-8T>C rs753131403
NM_005591.4(MRE11):c.1501-9A>G
NM_005591.4(MRE11):c.1512C>T (p.Phe504=)
NM_005591.4(MRE11):c.153+14G>C
NM_005591.4(MRE11):c.154-19_154-18del
NM_005591.4(MRE11):c.1545A>G (p.Glu515=) rs886048759
NM_005591.4(MRE11):c.1560T>C (p.Arg520=) rs1333614213
NM_005591.4(MRE11):c.1563+10C>T
NM_005591.4(MRE11):c.1563+19A>G
NM_005591.4(MRE11):c.1564-10T>C rs1591655511
NM_005591.4(MRE11):c.1564-12_1564-10del
NM_005591.4(MRE11):c.1564-15TCT[4]
NM_005591.4(MRE11):c.1564-7C>T rs863224403
NM_005591.4(MRE11):c.1674T>C (p.Ser558=)
NM_005591.4(MRE11):c.174T>C (p.Gly58=)
NM_005591.4(MRE11):c.174T>G (p.Gly58=) rs1591719401
NM_005591.4(MRE11):c.1783+17G>A
NM_005591.4(MRE11):c.1783+19C>G
NM_005591.4(MRE11):c.1783+8C>A
NM_005591.4(MRE11):c.1784-17G>A
NM_005591.4(MRE11):c.1784-19C>T
NM_005591.4(MRE11):c.1868-4C>A rs768257868
NM_005591.4(MRE11):c.1868-9del rs770953646
NM_005591.4(MRE11):c.1882A>C (p.Arg628=) rs1411087205
NM_005591.4(MRE11):c.1896C>T (p.Ser632=)
NM_005591.4(MRE11):c.18A>G (p.Ala6=)
NM_005591.4(MRE11):c.1908T>A (p.Thr636=)
NM_005591.4(MRE11):c.1923A>G (p.Ser641=) rs746938043
NM_005591.4(MRE11):c.1927-18G>A
NM_005591.4(MRE11):c.1927-22_1927-19del
NM_005591.4(MRE11):c.1927-8del
NM_005591.4(MRE11):c.1927-9C>A rs1060504336
NM_005591.4(MRE11):c.1935G>A (p.Glu645=) rs1060504338
NM_005591.4(MRE11):c.1953G>A (p.Val651=)
NM_005591.4(MRE11):c.1956A>G (p.Glu652=) rs1591640926
NM_005591.4(MRE11):c.1994+15T>C
NM_005591.4(MRE11):c.1994+17T>A
NM_005591.4(MRE11):c.1995-19_1995-8del rs768294115
NM_005591.4(MRE11):c.1995-25TGTTTT[2]
NM_005591.4(MRE11):c.1995-6C>T
NM_005591.4(MRE11):c.2007A>G (p.Thr669=) rs1554999945
NM_005591.4(MRE11):c.2028C>T (p.Ser676=) rs876660252
NM_005591.4(MRE11):c.2064A>G (p.Ser688=) rs1591633817
NM_005591.4(MRE11):c.2070+16T>C
NM_005591.4(MRE11):c.2076T>C (p.Asp692=)
NM_005591.4(MRE11):c.21-11T>C
NM_005591.4(MRE11):c.21-14_21-12del
NM_005591.4(MRE11):c.21-17C>T
NM_005591.4(MRE11):c.21-4A>C
NM_005591.4(MRE11):c.21-5T>C
NM_005591.4(MRE11):c.21-9T>C rs1060504339
NM_005591.4(MRE11):c.228C>T (p.Leu76=) rs748605250
NM_005591.4(MRE11):c.235T>C (p.Leu79=) rs745332888
NM_005591.4(MRE11):c.261G>T (p.Arg87=)
NM_005591.4(MRE11):c.300C>T (p.Asn100=)
NM_005591.4(MRE11):c.303T>C (p.Phe101=) rs786201176
NM_005591.4(MRE11):c.314+10T>G rs1591718805
NM_005591.4(MRE11):c.315-4T>A rs878854777
NM_005591.4(MRE11):c.327G>A (p.Val109=)
NM_005591.4(MRE11):c.345C>T (p.Asn115=)
NM_005591.4(MRE11):c.37T>A (p.Phe13Ile) rs149101834
NM_005591.4(MRE11):c.396C>T (p.Pro132=)
NM_005591.4(MRE11):c.403-6_403-5delinsAT rs1555015255
NM_005591.4(MRE11):c.405A>T (p.Ala135=) rs878854778
NM_005591.4(MRE11):c.414T>C (p.Leu138=) rs878854779
NM_005591.4(MRE11):c.429T>C (p.Ile143=)
NM_005591.4(MRE11):c.462A>G (p.Gly154=) rs786201311
NM_005591.4(MRE11):c.474T>C (p.Ser158=) rs1555015191
NM_005591.4(MRE11):c.498G>T (p.Pro166=)
NM_005591.4(MRE11):c.519C>T (p.Ser173=)
NM_005591.4(MRE11):c.531G>A (p.Ala177=) rs376621889
NM_005591.4(MRE11):c.544+7C>T
NM_005591.4(MRE11):c.544+9G>A
NM_005591.4(MRE11):c.54A>G (p.Ala18=)
NM_005591.4(MRE11):c.561A>G (p.Glu187=)
NM_005591.4(MRE11):c.564G>A (p.Arg188=)
NM_005591.4(MRE11):c.567C>G (p.Leu189=)
NM_005591.4(MRE11):c.597A>G (p.Thr199=) rs1555014527
NM_005591.4(MRE11):c.618T>C (p.Asp206=) rs786201438
NM_005591.4(MRE11):c.636C>T (p.Asn212=) rs876658151
NM_005591.4(MRE11):c.659+11T>C
NM_005591.4(MRE11):c.659+14C>G
NM_005591.4(MRE11):c.660-5T>G rs587781873
NM_005591.4(MRE11):c.660-7G>T
NM_005591.4(MRE11):c.678T>C (p.Thr226=)
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.846-20T>C
NM_005591.4(MRE11):c.846-6C>T
NM_005591.4(MRE11):c.855T>C (p.Gly285=) rs864622478
NM_005591.4(MRE11):c.924C>T (p.Phe308=) rs138595973
NM_005591.4(MRE11):c.942A>G (p.Leu314=) rs1555012700
NM_005591.4(MRE11):c.954A>G (p.Pro318=) rs876660337

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