ClinVar Miner

List of variants in gene ATM reported as pathogenic for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 238
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter) rs758081262 0.00003
NM_000051.4(ATM):c.538C>T (p.Gln180Ter) rs730881333 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter) rs747563556 0.00001
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter) rs587779813 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter) rs777849257 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3078-1G>A rs750663117 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.332-1G>A rs747855862 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter) rs766438805 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5203dup (p.Thr1735fs) rs878853518 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.829G>T (p.Glu277Ter) rs876660933 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.902-1G>T rs1064793518 0.00001
GRCh37/hg19 11q22.3(chr11:108188097-108188249)x0
GRCh37/hg19 11q22.3(chr11:108233807-108245056)x1
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.4493_4494insLINE1
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.4(ATM):c.1120del (p.Gln374fs) rs2135292079
NM_000051.4(ATM):c.1126_1127del (p.Glu376fs) rs1064795624
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.4(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1470dup (p.Thr491fs) rs2135323866
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.4(ATM):c.154G>T (p.Gly52Ter) rs730881362
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter) rs2080118610
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.4(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.4(ATM):c.1658del (p.Gly553fs) rs1064796556
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter) rs886039644
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter) rs2080176523
NM_000051.4(ATM):c.1802+1del
NM_000051.4(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.4(ATM):c.1898+2T>G rs587782124
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.4(ATM):c.2167_2173del (p.Val723fs) rs1064793033
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.4(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_000051.4(ATM):c.2564dup (p.Met855fs) rs730881299
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.257del (p.Thr86fs)
NM_000051.4(ATM):c.2638+2T>C rs587779826
NM_000051.4(ATM):c.2639-22_2639-20del rs1064795554
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.4(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2817del (p.Lys940fs) rs1555083435
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2897_2899delinsGCCAA (p.Val966fs) rs730881301
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+1G>T rs587781558
NM_000051.4(ATM):c.2921+2T>G rs2135549026
NM_000051.4(ATM):c.2922-50_2940del rs1555084832
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter) rs147557621
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+2T>G rs1555055358
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.4(ATM):c.3349_3355delinsTAAACAT (p.Gln1117_Ala1119delinsTer) rs1064796055
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.4(ATM):c.349del (p.Cys117fs)
NM_000051.4(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.4(ATM):c.3527del (p.Leu1176fs) rs2135669236
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3619G>T (p.Glu1207Ter) rs772724024
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.364_368del (p.Asn122fs) rs1555059095
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.4(ATM):c.368del (p.Tyr123fs) rs730881296
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.37_49del (p.Arg13fs)
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3829G>T (p.Glu1277Ter)
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter) rs587779836
NM_000051.4(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.4(ATM):c.3852del (p.Asp1285fs) rs886039605
NM_000051.4(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.3931C>T (p.Gln1311Ter) rs200976093
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.4(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.4(ATM):c.4093del (p.Leu1365fs) rs2135737651
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.4(ATM):c.4416del (p.Ile1473fs) rs886039697
NM_000051.4(ATM):c.4467del (p.Ser1490fs) rs2135798153
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_000051.4(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.4(ATM):c.468G>A (p.Trp156Ter) rs1591475457
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4769del (p.Leu1590fs)
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777-2A>C
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.4879C>T (p.Gln1627Ter) rs886039592
NM_000051.4(ATM):c.4900_4904del (p.Ala1634fs) rs1591685276
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.4(ATM):c.492G>A (p.Trp164Ter) rs1555059530
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5178del (p.Cys1726fs)
NM_000051.4(ATM):c.5201_5202insAT (p.Thr1735fs) rs730881305
NM_000051.4(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs) rs2135927504
NM_000051.4(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.4(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5496+1G>T rs879254180
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5497-2A>G rs786203796
NM_000051.4(ATM):c.549_550del (p.His183fs) rs730881297
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554dup (p.Gln1852fs) rs1555107356
NM_000051.4(ATM):c.5570C>A (p.Ser1857Ter) rs2135944016
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5587del (p.Ser1863fs)
NM_000051.4(ATM):c.5599C>T (p.Gln1867Ter)
NM_000051.4(ATM):c.561_562delinsT (p.Ala188fs) rs1064793031
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer) rs876658548
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.652C>T (p.Gln218Ter) rs1555066551
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.667G>T (p.Glu223Ter)
NM_000051.4(ATM):c.66del (p.Glu22fs) rs2135006691
NM_000051.4(ATM):c.706_707del (p.Leu236fs)
NM_000051.4(ATM):c.709dup (p.Thr237fs) rs2079758064
NM_000051.4(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.4(ATM):c.852del (p.Gln284fs)
NM_000051.4(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.4(ATM):c.901+1G>C rs748840480
NM_000051.4(ATM):c.945dup (p.Tyr316fs) rs2135265770
Single allele

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