ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 95
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HGVS dbSNP gnomAD frequency
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter) rs104894103 0.00044
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter) rs137852761 0.00007
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442 0.00007
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter) rs984874083 0.00004
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter) rs587781384 0.00004
NM_001195248.2(APTX):c.596del (p.Arg199fs) rs770007531 0.00002
NM_005591.4(MRE11):c.1867+2T>C rs745677716 0.00002
NM_005591.4(MRE11):c.659+1G>A rs759130031 0.00002
NM_001195248.2(APTX):c.617C>T (p.Pro206Leu) rs121908131 0.00001
NM_001195248.2(APTX):c.689dup (p.Glu232fs) rs587776593 0.00001
NM_005591.4(MRE11):c.1096C>T (p.Arg366Ter) rs372411821 0.00001
NM_005591.4(MRE11):c.1225+2T>C rs145058858 0.00001
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.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.350A>G (p.Asn117Ser) rs137852760 0.00001
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038 0.00001
GRCh37/hg19 11q21(chr11:94153291-94170401)
NC_000009.12:g.(?_32973498)_(33001604_?)del
NC_000011.10:g.(?_94470461)_(94492811_?)del
NC_000011.10:g.94456339dup
NC_000011.9:g.(?_94153291)_(94225967_?)del
NC_000011.9:g.(?_94168988)_(94170411_?)del
NC_000011.9:g.(?_94180375)_(94180614_?)del
NM_001195248.2(APTX):c.484-1G>T rs1563963464
NM_001195248.2(APTX):c.544-1G>C rs2118688818
NM_001195248.2(APTX):c.587dup (p.Ala198fs) rs2118686800
NM_001195248.2(APTX):c.602A>G (p.His201Arg) rs121908133
NM_001195248.2(APTX):c.638del (p.Leu213fs)
NM_001195248.2(APTX):c.668T>C (p.Leu223Pro) rs267606665
NM_001195248.2(APTX):c.697A>T (p.Lys233Ter) rs1114167423
NM_001195248.2(APTX):c.776del (p.Val259fs) rs1563945076
NM_001195248.2(APTX):c.788T>G (p.Val263Gly) rs121908132
NM_001195248.2(APTX):c.841del (p.Ser281fs) rs587776594
NM_001195248.2(APTX):c.875-1G>A rs1587330671
NM_001195248.2(APTX):c.875-2A>G rs904293109
NM_005591.4(MRE11):c.-4_13A[5]TGAGTACTGCAGGCCGGTCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAATGAGTACTGCAG[1] (p.Asp5delinsGlyArgSerArgTrpLeuThrProValIleProAlaLeuTrpGluAlaGluAlaGlyGlySerArgXaaXaaXaaXaaLysLysLysLysLysLysLysLysTer)
NM_005591.4(MRE11):c.1005_1006del (p.Phe335fs)
NM_005591.4(MRE11):c.1018del (p.Ile340fs) rs2135024880
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.1112_1127del (p.Gly371fs) rs1169667763
NM_005591.4(MRE11):c.1112dup (p.Gly372fs) rs1591681273
NM_005591.4(MRE11):c.1127del (p.Phe376fs)
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)
NM_005591.4(MRE11):c.1280dup (p.Leu427fs) rs2134999988
NM_005591.4(MRE11):c.1300A>T (p.Lys434Ter)
NM_005591.4(MRE11):c.1308C>G (p.Tyr436Ter)
NM_005591.4(MRE11):c.1326+1del rs1946397259
NM_005591.4(MRE11):c.1378G>T (p.Glu460Ter)
NM_005591.4(MRE11):c.140C>T (p.Ala47Val) rs730880378
NM_005591.4(MRE11):c.1419del (p.Leu473_Val474insTer)
NM_005591.4(MRE11):c.142del (p.Gln48fs)
NM_005591.4(MRE11):c.1441del (p.Thr481fs) rs747832587
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys) rs137852762
NM_005591.4(MRE11):c.1444_1445del (p.Gln482fs) rs1245161888
NM_005591.4(MRE11):c.1456_1462dup (p.Arg488fs)
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)
NM_005591.4(MRE11):c.1477del (p.Leu493fs)
NM_005591.4(MRE11):c.1522del (p.Arg508fs)
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)
NM_005591.4(MRE11):c.1552dup (p.Glu518fs) rs2134969994
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs) rs876660186
NM_005591.4(MRE11):c.163_167del (p.Ile55fs)
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)
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.403-2A>T rs2135086294
NM_005591.4(MRE11):c.422dup (p.Leu141fs) rs1565233979
NM_005591.4(MRE11):c.489_490del (p.Asp163_Ile164insTer)
NM_005591.4(MRE11):c.490_496dup (p.Pro166delinsHisTer)
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.630G>C (p.Trp210Cys) rs137852763
NM_005591.4(MRE11):c.664A>T (p.Lys222Ter) rs371455048
NM_005591.4(MRE11):c.694C>T (p.Gln232Ter)
NM_005591.4(MRE11):c.739dup (p.His247fs) rs786203931
NM_005591.4(MRE11):c.768del (p.Asn256fs)
NM_005591.4(MRE11):c.76_77del (p.Met26fs)
NM_005591.4(MRE11):c.784del (p.Tyr262fs)
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)
NM_005591.4(MRE11):c.982_983insCCTGTATGGCTTG (p.Val328fs)

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