ClinVar Miner

List of variants reported as likely pathogenic for Ataxia-telangiectasia syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
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HGVS dbSNP
NC_000011.9:g.(?_108106391)_(108106567_?)del
NC_000011.9:g.(?_108114670)_(108225611_?)dup
NC_000011.9:g.(?_108114674)_(108225607_?)dup
NC_000011.9:g.(?_108137888)_(108225611_?)dup
NC_000011.9:g.(?_108163346)_(108170612_?)del
NC_000011.9:g.(?_108198362)_(108202294_?)del
NC_000011.9:g.(?_108198372)_(108202284_?)del
NC_000011.9:g.(?_108205686)_(108225611_?)del
NC_000011.9:g.(?_108205690)_(108225607_?)del
NC_000011.9:g.(?_108206566)_(108206694_?)del
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1065+1G>C rs201089102
NM_000051.3(ATM):c.1065+1G>T rs201089102
NM_000051.3(ATM):c.1066-1G>T rs876660038
NM_000051.3(ATM):c.1066-2A>C rs1555069514
NM_000051.3(ATM):c.1066-3_1072delCAGGTTTTTA
NM_000051.3(ATM):c.1092_1235+363del
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000051.3(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1236-1G>A rs1408719214
NM_000051.3(ATM):c.1236-2delA rs1565381646
NM_000051.3(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.3(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1608-1G>A rs1565385010
NM_000051.3(ATM):c.1608-1G>C rs1565385010
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1783_1802+91del rs1555072063
NM_000051.3(ATM):c.1803-2A>G rs1057517358
NM_000051.3(ATM):c.185+1G>A rs112805604
NM_000051.3(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.3(ATM):c.186-1G>A rs1259911051
NM_000051.3(ATM):c.1899-1G>T
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.3(ATM):c.2023C>T (p.Gln675Ter) rs777849257
NM_000051.3(ATM):c.2124+1G>T rs1555073553
NM_000051.3(ATM):c.2125-15_2128delGTGGTTTACTTTAAGATTA rs1064792940
NM_000051.3(ATM):c.2125-1G>A rs1402299151
NM_000051.3(ATM):c.2125-2A>C rs1565394403
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.3(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2250+1G>A rs1565395193
NM_000051.3(ATM):c.2250+2T>C rs1555075037
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.2376+1G>T rs730881347
NM_000051.3(ATM):c.2377-2A>G rs1057516553
NM_000051.3(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.3(ATM):c.2466+2T>A rs878853495
NM_000051.3(ATM):c.2466+2T>G rs878853495
NM_000051.3(ATM):c.2467-1G>A rs1328985852
NM_000051.3(ATM):c.2467-2A>C rs1555082050
NM_000051.3(ATM):c.2467-2A>T rs1555082050
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.3(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.3(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2838+1G>T rs1555083469
NM_000051.3(ATM):c.2839-2A>G rs1060501703
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.3(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+2dup rs1565424654
NM_000051.3(ATM):c.2922-1G>T rs1555084931
NM_000051.3(ATM):c.2922-50_2940delGTGTTCTGTTAAGCTTATAAAGTTGAACTTTTTTTTTTTTTTTACCACAGCAATGTGTGTTCTTTGTAT rs1555084832
NM_000051.3(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.3(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.3(ATM):c.3077+1G>A rs192810283
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.3(ATM):c.3146_3153+2del
NM_000051.3(ATM):c.3154-1G>A rs1555085973
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.3(ATM):c.3284+1G>A rs864622129
NM_000051.3(ATM):c.3284+1G>C rs864622129
NM_000051.3(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.3(ATM):c.331+1G>A rs1555055356
NM_000051.3(ATM):c.331+2T>G rs1555055358
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.3(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.3(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-1G>C rs1057517226
NM_000051.3(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3747-2A>G rs1057517213
NM_000051.3(ATM):c.3747-3_3751del rs1555093256
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3935_3936GA[2] (p.Glu1313fs) rs1555093684
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.3(ATM):c.3993+1G>T rs200196781
NM_000051.3(ATM):c.3994-1G>T rs1057516238
NM_000051.3(ATM):c.3994-2A>G rs587782276
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4093_4094CT[1] (p.Leu1365_Cys1366insTer) rs1555096057
NM_000051.3(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4111delG rs797045114
NM_000051.3(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.3(ATM):c.4236+1G>T rs876660674
NM_000051.3(ATM):c.4237-2A>G
NM_000051.3(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.4356_4357TA[1] (p.Ile1453fs) rs1555097650
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.3(ATM):c.4436+1G>T rs1555097894
NM_000051.3(ATM):c.4437-1G>C rs759520465
NM_000051.3(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4611+1G>A rs1565461840
NM_000051.3(ATM):c.4612-1G>A rs1555100351
NM_000051.3(ATM):c.4612-2A>C rs1555100347
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.3(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4776+1G>T rs771117943
NM_000051.3(ATM):c.4776+2T>A rs587781927
NM_000051.3(ATM):c.4777-1G>A
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4910-1G>T rs1060501706
NM_000051.3(ATM):c.4910-2A>G
NM_000051.3(ATM):c.495_496+16del18 rs1555059522
NM_000051.3(ATM):c.496+5G>A rs796051858
NM_000051.3(ATM):c.497-1G>C
NM_000051.3(ATM):c.5005+1G>T rs1057517427
NM_000051.3(ATM):c.5006-1G>A
NM_000051.3(ATM):c.5129_5763-1060del
NM_000051.3(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+5G>A rs759373136
NM_000051.3(ATM):c.5178-1G>A rs1555105579
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.3(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_000051.3(ATM):c.5319+1G>T rs876660175
NM_000051.3(ATM):c.5319+2T>C rs1555105842
NM_000051.3(ATM):c.5320-4_5323del8 rs1057516540
NM_000051.3(ATM):c.5320-5_5320-2delTCTA rs730881310
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.3(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5496+2T>G
NM_000051.3(ATM):c.5496+2_5496+5delTAAG rs1565479572
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.5497-2A>G rs786203796
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5762+1G>A rs869312756
NM_000051.3(ATM):c.5762+1G>T rs869312756
NM_000051.3(ATM):c.5763-2A>T rs876659489
NM_000051.3(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.5918+1G>A
NM_000051.3(ATM):c.5919-2A>C rs746623393
NM_000051.3(ATM):c.5919-2A>G rs746623393
NM_000051.3(ATM):c.6006+1G>C rs786202016
NM_000051.3(ATM):c.6007dup (p.Asp2003Glyfs) rs1555113505
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.3(ATM):c.6095+1G>A rs587781584
NM_000051.3(ATM):c.6095+2T>C rs1057516525
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6096-1G>C
NM_000051.3(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.3(ATM):c.6198+2T>C rs1555113882
NM_000051.3(ATM):c.6199-2A>T rs1060501570
NM_000051.3(ATM):c.6199-2delA rs1555114545
NM_000051.3(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.3(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6348-1G>A rs1057517302
NM_000051.3(ATM):c.6348-2A>G rs864622367
NM_000051.3(ATM):c.6385T>G (p.Tyr2129Asp) rs876658542
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6452+2T>C rs1064795006
NM_000051.3(ATM):c.6453-1G>A
NM_000051.3(ATM):c.6453-1G>C rs1555117071
NM_000051.3(ATM):c.6480_6481GC[3] (p.Ser2162fs) rs1057516905
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6573-2A>G rs751168951
NM_000051.3(ATM):c.6573-9G>A
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.6592_6593CT[2] (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.3(ATM):c.662+1G>A rs1060501690
NM_000051.3(ATM):c.663-2A>G rs886041931
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6899G>C (p.Trp2300Ser) rs1555119899
NM_000051.3(ATM):c.6975+1G>T rs1565521129
NM_000051.3(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.3(ATM):c.6976-10_6989delTCTTATACAGAACAATCCCAGCCT rs587779859
NM_000051.3(ATM):c.6976-1G>A
NM_000051.3(ATM):c.6976-1G>T
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.6996_6999TACA[1] (p.Tyr2334fs) rs786203421
NM_000051.3(ATM):c.6997dup (p.Thr2333fs) rs587781299
NM_000051.3(ATM):c.7089+2T>G rs1057516235
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.72+2delT rs1555053972
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7308-2A>C rs1555122938
NM_000051.3(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.3(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.3(ATM):c.7570G>C (p.Ala2524Pro) rs769142993
NM_000051.3(ATM):c.7629+1G>A rs1565532703
NM_000051.3(ATM):c.7629+2T>C rs786203059
NM_000051.3(ATM):c.7629_7629+4del rs876660041
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7703_7704GA[1] (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.3(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.3(ATM):c.7788+1G>T rs1565534524
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7789-3T>G rs864622185
NM_000051.3(ATM):c.7796del (p.Thr2599fs) rs1555125223
NM_000051.3(ATM):c.7836_7837GA[3] (p.Pro2614fs) rs730881293
NM_000051.3(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7926A>C (p.Arg2642Ser) rs863224440
NM_000051.3(ATM):c.7927+1G>C rs1555125532
NM_000051.3(ATM):c.7927+5delG rs786204437
NM_000051.3(ATM):c.7928-1G>A rs1555126163
NM_000051.3(ATM):c.7928-2A>T rs864622610
NM_000051.3(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.3(ATM):c.8010+1delG rs876659350
NM_000051.3(ATM):c.8010+2T>C
NM_000051.3(ATM):c.8011-1G>T rs1555127017
NM_000051.3(ATM):c.8011-2A>C
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8148_8151+2delTAAGGT rs1565541335
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8189A>C (p.Gln2730Pro)
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.3(ATM):c.8416_8418+5del
NM_000051.3(ATM):c.8418+1G>A rs766533795
NM_000051.3(ATM):c.8418+2T>C rs1060501713
NM_000051.3(ATM):c.8419-2A>G rs1555137917
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.3(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.3(ATM):c.8546G>C (p.Arg2849Pro) rs587782202
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.3(ATM):c.8584+1G>A rs876658182
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.8585-2A>G rs1060501700
NM_000051.3(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.3(ATM):c.8671+1G>T rs1555139694
NM_000051.3(ATM):c.8671+2T>C rs1057516229
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8786+2T>A rs1555142918
NM_000051.3(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8851-1G>T rs1057516537
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-1G>T
NM_000051.3(ATM):c.8988-2A>C rs786202087
NM_000051.3(ATM):c.8988-2A>G rs786202087
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.901+1_901+26delGTATAAAGGAAATGTTTACTGTTTTG
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9023G>A (p.Arg3008His) rs587781894
NM_000051.3(ATM):c.9050_9051insTTCA (p.Lys3018fs) rs1555151854
NM_000051.3(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_000051.3(ATM):c.9145_9146del (p.Phe3049fs) rs1555152058
NM_000051.3(ATM):c.9146del (p.Phe3049fs) rs1555152058
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511

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