ClinVar Miner

List of variants in gene ATM reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 395
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.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.3994-2A>G rs587782276 0.00002
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter) rs1555070980 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.186-1G>A rs1259911051 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.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr) rs876660628 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.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.3965T>C (p.Leu1322Pro) rs786203306 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.4437-1G>C rs759520465 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.497-1G>A rs778624615 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 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.72+1G>A rs786204088 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.967A>G (p.Ile323Val) rs587781511 0.00001
NC_000011.10:g.(?_108235664)_(108235840_?)del
NC_000011.10:g.(?_108243943)_(108249112_?)del
NC_000011.10:g.(?_108246954)_(108289811_?)dup
NC_000011.10:g.(?_108284217)_(108284483_?)dup
NC_000011.10:g.(?_108292619)_(108299885_?)del
NC_000011.10:g.(?_108294917)_(108295069_?)dup
NC_000011.10:g.(?_108299704)_(108304862_?)del
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(?_108099886)_(108143599_?)del
NC_000011.9:g.(?_108106377)_(108143599_?)dup
NC_000011.9:g.(?_108106387)_(108106571_?)del
NC_000011.9:g.(?_108106387)_(108119839_?)dup
NC_000011.9:g.(?_108114117)_(108115618_?)del
NC_000011.9:g.(?_108115586)_(108118919_?)del
NC_000011.9:g.(?_108117671)_(108119849_?)dup
NC_000011.9:g.(?_108117671)_(108160548_?)dup
NC_000011.9:g.(?_108119686)_(108120192_?)del
NC_000011.9:g.(?_108122622)_(108131084_?)del
NC_000011.9:g.(?_108124463)_(108126942_?)del
NC_000011.9:g.(?_108124521)_(108150355_?)dup
NC_000011.9:g.(?_108129693)_(108160548_?)dup
NC_000011.9:g.(?_108137888)_(108138753_?)dup
NC_000011.9:g.(?_108139185)_(108143458_?)del
NC_000011.9:g.(?_108150208)_(108168119_?)dup
NC_000011.9:g.(?_108150208)_(108225611_?)dup
NC_000011.9:g.(?_108150557)_(108153493_?)del
NC_000011.9:g.(?_108151710)_(108192157_?)dup
NC_000011.9:g.(?_108154055)_(108160452_?)del
NC_000011.9:g.(?_108159694)_(108225611_?)dup
NC_000011.9:g.(?_108163326)_(108170632_?)del
NC_000011.9:g.(?_108163336)_(108170622_?)del
NC_000011.9:g.(?_108163340)_(108170618_?)del
NC_000011.9:g.(?_108178614)_(108183235_?)dup
NC_000011.9:g.(?_108183089)_(108225611_?)dup
NC_000011.9:g.(?_108196027)_(108199975_?)del
NC_000011.9:g.(?_108206566)_(108206694_?)del
NC_000011.9:g.(?_108206635)_(108211067_?)del
NC_000011.9:g.(?_108213939)_(108225611_?)del
NC_000011.9:g.(?_108217996)_(108218102_?)del
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.-30-1G>T rs869312754
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1065+1G>A rs201089102
NM_000051.4(ATM):c.1065+1G>C rs201089102
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1065+2T>C
NM_000051.4(ATM):c.1066-1G>A rs876660038
NM_000051.4(ATM):c.1066-1G>T rs876660038
NM_000051.4(ATM):c.1066-1_1081del rs2135289838
NM_000051.4(ATM):c.1066-2A>C rs1555069514
NM_000051.4(ATM):c.1066-2A>T rs1555069514
NM_000051.4(ATM):c.1066-3_1072del rs1591517089
NM_000051.4(ATM):c.1092_1235+363del rs1591517314
NM_000051.4(ATM):c.1092_1235+363delinsCTT
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.4(ATM):c.1192del (p.Asp398fs) rs1057519330
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.1235+1G>A rs1555069881
NM_000051.4(ATM):c.1235+1G>C
NM_000051.4(ATM):c.1235+2T>A
NM_000051.4(ATM):c.1235+2T>C rs2135296157
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser) rs587779813
NM_000051.4(ATM):c.1236-1G>A rs1408719214
NM_000051.4(ATM):c.1236-2del rs1565381646
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1305del (p.Leu435fs) rs1555070719
NM_000051.4(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.4(ATM):c.1367del (p.Leu456fs) rs1555070832
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.153dup (p.Gly52fs) rs1555054197
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.1608-1G>A rs1565385010
NM_000051.4(ATM):c.1608-1G>C rs1565385010
NM_000051.4(ATM):c.1608-2A>C rs2135338498
NM_000051.4(ATM):c.1617dup (p.Cys540fs)
NM_000051.4(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.4(ATM):c.1668_2466+1284del
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs) rs1057516721
NM_000051.4(ATM):c.1743dup (p.Phe582fs)
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.4(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.4(ATM):c.1783_1802+91del rs1555072063
NM_000051.4(ATM):c.1799_1802+5del rs781244480
NM_000051.4(ATM):c.1802+1G>T rs2135344665
NM_000051.4(ATM):c.1803-1G>A
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.1813del (p.His605fs) rs2135352736
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro) rs786203783
NM_000051.4(ATM):c.185+1G>A rs112805604
NM_000051.4(ATM):c.185+1del rs2078826294
NM_000051.4(ATM):c.1856del (p.Asn619fs) rs1057517300
NM_000051.4(ATM):c.186-2A>G rs2078881350
NM_000051.4(ATM):c.1899-1_1902del
NM_000051.4(ATM):c.1899-3_1899-2delinsTG
NM_000051.4(ATM):c.1899-8_1904del rs2080290215
NM_000051.4(ATM):c.1914dup (p.Asp639fs) rs2080292910
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.1A>G (p.Met1Val) rs730881359
NM_000051.4(ATM):c.2074_2124+280del
NM_000051.4(ATM):c.2086_2087dup
NM_000051.4(ATM):c.2124+1G>A rs1555073553
NM_000051.4(ATM):c.2124+1G>T rs1555073553
NM_000051.4(ATM):c.2124+1del rs2080318979
NM_000051.4(ATM):c.2125-15_2128del rs1064792940
NM_000051.4(ATM):c.2125-1G>A rs1402299151
NM_000051.4(ATM):c.2125-2A>C rs1565394403
NM_000051.4(ATM):c.2125-2_2128del rs2135391894
NM_000051.4(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter) rs1057516620
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.4(ATM):c.2376+1G>A rs730881347
NM_000051.4(ATM):c.2376+1G>C rs730881347
NM_000051.4(ATM):c.2376+1G>T rs730881347
NM_000051.4(ATM):c.2376+2T>C rs2135408476
NM_000051.4(ATM):c.2376+2T>G
NM_000051.4(ATM):c.2377-2A>G rs1057516553
NM_000051.4(ATM):c.2377-2A>T rs1057516553
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs) rs1057516980
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg) rs775644968
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2466+2T>C
NM_000051.4(ATM):c.2466+2T>G rs878853495
NM_000051.4(ATM):c.2467-1G>A rs1328985852
NM_000051.4(ATM):c.2467-2A>T rs1555082050
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter) rs879254046
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs) rs1057516944
NM_000051.4(ATM):c.2638+1G>T rs2135509713
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2639-1G>A
NM_000051.4(ATM):c.2639-2A>G rs1591593566
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2838+1G>A rs1555083469
NM_000051.4(ATM):c.2838+1G>T rs1555083469
NM_000051.4(ATM):c.2838+6T>C rs781730571
NM_000051.4(ATM):c.2838G>T (p.Met946Ile) rs1317505466
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.283C>T (p.Gln95Ter) rs587781545
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg) rs786203054
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter) rs1057517253
NM_000051.4(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+1G>C rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.2922-1G>T rs1555084931
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg) rs2135551484
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr) rs1555085052
NM_000051.4(ATM):c.2966dup (p.Ile990fs) rs1555085060
NM_000051.4(ATM):c.2999dup (p.Asn1000fs) rs1057516250
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3068del (p.Gly1023fs) rs1057516590
NM_000051.4(ATM):c.3077+1G>A rs192810283
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter) rs780240314
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro) rs568461905
NM_000051.4(ATM):c.3153+1G>A rs2081646501
NM_000051.4(ATM):c.3153+1G>T rs2081646501
NM_000051.4(ATM):c.3153+2T>C rs2135566959
NM_000051.4(ATM):c.3154-1G>A rs1555085973
NM_000051.4(ATM):c.3154-1_3154delinsTT rs2081657007
NM_000051.4(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.4(ATM):c.3248A>G (p.His1083Arg) rs2081667850
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.3284+1G>C rs864622129
NM_000051.4(ATM):c.3284+3A>G rs1591610398
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys) rs587781815
NM_000051.4(ATM):c.3292del (p.Gln1098fs) rs1555090075
NM_000051.4(ATM):c.331+1G>A rs1555055356
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.331+5G>A rs752135143
NM_000051.4(ATM):c.3315dup (p.Arg1106fs) rs1057516301
NM_000051.4(ATM):c.332-3_347del
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer) rs1555090139
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs) rs1057516446
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs) rs587781971
NM_000051.4(ATM):c.3402+1G>A rs1565439606
NM_000051.4(ATM):c.3402+1G>T rs1565439606
NM_000051.4(ATM):c.3403-1G>A rs1555091120
NM_000051.4(ATM):c.3403-1G>T
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3503dup (p.Cys1168fs) rs2082209411
NM_000051.4(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.4(ATM):c.3571_3576+1del rs2135670424
NM_000051.4(ATM):c.3576+1G>A rs876660621
NM_000051.4(ATM):c.3576+1G>T rs876660621
NM_000051.4(ATM):c.3576G>C (p.Lys1192Asn)
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn) rs587776551
NM_000051.4(ATM):c.3577-1G>C rs1057517226
NM_000051.4(ATM):c.3577-2A>G rs887358871
NM_000051.4(ATM):c.3603del (p.Phe1201fs) rs1057517129
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs) rs2082302853
NM_000051.4(ATM):c.3746+1G>T rs2082309297
NM_000051.4(ATM):c.3746+452_4363del
NM_000051.4(ATM):c.3747-1G>C rs730881364
NM_000051.4(ATM):c.3747-2A>G rs1057517213
NM_000051.4(ATM):c.3747-3_3751del rs1555093256
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.4(ATM):c.3764dup (p.Leu1255fs) rs1555093303
NM_000051.4(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.4(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
NM_000051.4(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3990del (p.Lys1330fs) rs1057517100
NM_000051.4(ATM):c.3993+1G>T rs200196781
NM_000051.4(ATM):c.3994-1G>T rs1057516238
NM_000051.4(ATM):c.4007del (p.Phe1336fs) rs1555095841
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.4(ATM):c.4062del (p.Ala1355fs) rs2135736779
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer) rs1555096057
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.4109+1G>A rs879254034
NM_000051.4(ATM):c.4109+1G>T rs879254034
NM_000051.4(ATM):c.4111del rs797045114
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter) rs141087784
NM_000051.4(ATM):c.4236+1G>A
NM_000051.4(ATM):c.4236+1G>C
NM_000051.4(ATM):c.4236+1G>T rs876660674
NM_000051.4(ATM):c.4236+1_4236+2del rs2135753954
NM_000051.4(ATM):c.4236+1del rs2135753984
NM_000051.4(ATM):c.4236+2T>A rs1229926683
NM_000051.4(ATM):c.4237-2A>G rs1591662492
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter) rs1057516311
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.4426_4436+14del
NM_000051.4(ATM):c.4436+1G>T rs1555097894
NM_000051.4(ATM):c.4451del (p.Met1484fs) rs1555099760
NM_000051.4(ATM):c.4575dup (p.Pro1526fs) rs2135801723
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.4(ATM):c.4611+1G>A rs1565461840
NM_000051.4(ATM):c.4611+1G>T
NM_000051.4(ATM):c.4611+1del rs1565461824
NM_000051.4(ATM):c.4611_4611+9del rs780969040
NM_000051.4(ATM):c.4612-1G>A rs1555100351
NM_000051.4(ATM):c.4612-2A>C rs1555100347
NM_000051.4(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.4(ATM):c.4695del (p.Pro1566fs) rs1057517452
NM_000051.4(ATM):c.471T>A (p.Cys157Ter) rs1555059459
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter) rs746499337
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.4(ATM):c.4741del (p.Ile1581fs) rs864622164
NM_000051.4(ATM):c.4776+1G>T rs771117943
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4777-1G>A rs1591684268
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4879del (p.Gln1627fs) rs2135837254
NM_000051.4(ATM):c.4910-1G>C rs1060501706
NM_000051.4(ATM):c.4910-1G>T rs1060501706
NM_000051.4(ATM):c.4910-2A>C rs1555103156
NM_000051.4(ATM):c.4910-2A>G rs1555103156
NM_000051.4(ATM):c.4910-2A>T rs1555103156
NM_000051.4(ATM):c.495_496+16del rs1555059522
NM_000051.4(ATM):c.496+1G>A rs876658500
NM_000051.4(ATM):c.496+1G>C rs876658500
NM_000051.4(ATM):c.496+2T>G rs2079249834
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.497-1G>C rs778624615
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>G
NM_000051.4(ATM):c.5005+1G>A rs1057517427
NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys) rs1591693095
NM_000051.4(ATM):c.5006-1G>A rs1591701799
NM_000051.4(ATM):c.5006-2A>G rs2135887733
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs) rs1591702700
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer) rs1057516358
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5172dup (p.Asp1725fs) rs2135893222
NM_000051.4(ATM):c.5177+1G>C rs1131691159
NM_000051.4(ATM):c.5177+1del rs2083338520
NM_000051.4(ATM):c.5177+2T>A
NM_000051.4(ATM):c.5177+5G>A rs759373136
NM_000051.4(ATM):c.5178-1G>A rs1555105579
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5178-9_5202del rs2135911351
NM_000051.4(ATM):c.5276del (p.Pro1759fs)
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter) rs1555105786
NM_000051.4(ATM):c.5319+1G>A rs876660175
NM_000051.4(ATM):c.5319+1G>T rs876660175
NM_000051.4(ATM):c.5319+1del rs2135916021
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5319+2T>G rs1555105842
NM_000051.4(ATM):c.5320-1G>C rs2135926774
NM_000051.4(ATM):c.5320-2A>C rs1400417135
NM_000051.4(ATM):c.5320-2A>G
NM_000051.4(ATM):c.5320-4_5323del rs1057516540
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter) rs879254171
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter) rs1555106493
NM_000051.4(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.4(ATM):c.5496+1G>A rs879254180
NM_000051.4(ATM):c.5496+2T>A
NM_000051.4(ATM):c.5496+2T>G rs1591713093
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.5497-2A>C rs786203796
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.4(ATM):c.5549del (p.Leu1850fs) rs876658287
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.5675-1G>C rs2135975662
NM_000051.4(ATM):c.5675-24_5699del
NM_000051.4(ATM):c.5712del (p.Lys1904fs) rs587781730
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5762+1G>T rs869312756
NM_000051.4(ATM):c.588del (p.Gly197fs) rs1057516683
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.662+1G>A rs1060501690
NM_000051.4(ATM):c.662+2T>C
NM_000051.4(ATM):c.663-2A>G rs886041931
NM_000051.4(ATM):c.663-2A>T
NM_000051.4(ATM):c.663-2del
NM_000051.4(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.4(ATM):c.72+2del rs1555053972
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.829del (p.Glu277fs)
NM_000051.4(ATM):c.877A>T (p.Lys293Ter) rs1057516442
NM_000051.4(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.901+1_901+26del rs1380265721
NM_000051.4(ATM):c.901+2T>G
NM_000051.4(ATM):c.901+3A>T rs786203070
NM_000051.4(ATM):c.901G>A (p.Gly301Ser) rs1064797160
NM_000051.4(ATM):c.920_921del (p.Lys307fs) rs2135264840
NM_000051.4:c.(331+1_332-1)_(496+1_497-1)del

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