ClinVar Miner

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

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Total variants: 72
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HGVS dbSNP gnomAD frequency
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00003
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter) rs372411821 0.00001
NM_005591.4(MRE11):c.1112_1127del (p.Gly371fs) rs1169667763 0.00001
NM_005591.4(MRE11):c.1414G>T (p.Glu472Ter) rs1376550081 0.00001
NM_005591.4(MRE11):c.1603G>T (p.Glu535Ter) rs1440482403 0.00001
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186 0.00001
NM_005591.4(MRE11):c.170T>G (p.Leu57Ter) rs951805101 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
NM_005591.4(MRE11):c.504_511del (p.Leu169fs) rs786202253 0.00001
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00001
NC_000011.10:g.(?_94470461)_(94492811_?)del
NC_000011.10:g.94456339dup rs2496361666
NC_000011.9:g.(?_94153291)_(94225967_?)del
NC_000011.9:g.(?_94168988)_(94170411_?)del
NC_000011.9:g.(?_94180375)_(94180614_?)del
NC_000011.9:g.(?_94209435)_(94219270_?)del
NC_000011.9:g.(?_94209445)_(94225967_?)del
NC_000011.9:g.(?_94219070)_(94224151_?)del
NC_000011.9:g.(?_94219080)_(94219260_?)del
NC_000011.9:g.(?_94223979)_(94224151_?)del
NM_005591.4(MRE11):c.-4_13A[5]TGAGTACTGCAGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGTACTGCAG[1] (p.Asp5delinsGlyArgSerArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer) rs2496667489
NM_005591.4(MRE11):c.1005_1006del (p.Phe335fs) rs2496481962
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.1100_1131del (p.Val367fs) rs1946499901
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1127del (p.Phe376fs) rs2496427766
NM_005591.4(MRE11):c.1143del (p.Phe381fs) rs863224508
NM_005591.4(MRE11):c.1222dup (p.Thr408fs) rs774440500
NM_005591.4(MRE11):c.1250_1251del (p.Leu417fs) rs2496400489
NM_005591.4(MRE11):c.1280dup (p.Leu427fs) rs2134999988
NM_005591.4(MRE11):c.1300A>T (p.Lys434Ter) rs2496399525
NM_005591.4(MRE11):c.1308C>G (p.Tyr436Ter) rs759680878
NM_005591.4(MRE11):c.1326+1del rs1946397259
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter) rs2496386852
NM_005591.4(MRE11):c.1419del (p.Leu473_Val474insTer) rs2496385772
NM_005591.4(MRE11):c.142del (p.Gln48fs) rs2496652464
NM_005591.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) rs1245161888
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter) rs780001540
NM_005591.4(MRE11):c.1456_1462dup (p.Arg488fs) rs2496384744
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs) rs780775598
NM_005591.4(MRE11):c.1477del (p.Leu493fs) rs2496384376
NM_005591.4(MRE11):c.1522del (p.Arg508fs) rs2496361252
NM_005591.4(MRE11):c.1532dup (p.Asn511fs) rs757691558
NM_005591.4(MRE11):c.163_167del (p.Ile55fs) rs745766916
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter) rs774277300
NM_005591.4(MRE11):c.1885C>T (p.Gln629Ter) rs1157436927
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter) rs2134840569
NM_005591.4(MRE11):c.1920T>A (p.Tyr640Ter) rs1299953525
NM_005591.4(MRE11):c.1979C>A (p.Ser660Ter) rs2134831001
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) rs1565233979
NM_005591.4(MRE11):c.489_490del (p.Asp163_Ile164insTer) rs2496555781
NM_005591.4(MRE11):c.490_496dup (p.Pro166delinsHisTer) rs2496555527
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.694C>T (p.Gln232Ter) rs2496497653
NM_005591.4(MRE11):c.739dup (p.His247fs) rs786203931
NM_005591.4(MRE11):c.768del (p.Asn256fs) rs2496495665
NM_005591.4(MRE11):c.76_77del (p.Met26fs) rs2496653343
NM_005591.4(MRE11):c.784del (p.Tyr262fs) rs2496495153
NM_005591.4(MRE11):c.800dup (p.Ser268fs)
NM_005591.4(MRE11):c.806C>G (p.Ser269Ter) rs776912688
NM_005591.4(MRE11):c.820_821del (p.Leu274fs) rs1565228898
NM_005591.4(MRE11):c.939del (p.Val313_Leu314insTer) rs765675945
NM_005591.4(MRE11):c.982_983insCCTGTATGGCTTG (p.Val328fs) rs1946676671

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