ClinVar Miner

List of variants in gene ATM reported as pathogenic for DNA repair disease

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 311
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_108227619)_(108227894_?)del
NC_000011.10:g.(?_108246954)_(108247137_?)del
NC_000011.10:g.(?_108280995)_(108289801_?)del
NC_000011.10:g.(?_108287594)_(108287721_?)del
NC_000011.10:g.(?_108289602)_(108289801_?)del
NC_000011.9:g.(?_108098171)_(108124564_?)del
NC_000011.9:g.(?_108098346)_(108138075_?)del
NC_000011.9:g.(?_108119654)_(108119835_?)del
NC_000011.9:g.(?_108150212)_(108216641_?)del
NC_000011.9:g.(?_108178618)_(108236241_?)del
NM_000051.3(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.3(ATM):c.1017delT (p.Ile339Metfs) rs1469427343
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1036delA (p.Ile346Leufs)
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1045_1052delATGGCAGA (p.Met349Tyrfs)
NM_000051.3(ATM):c.1053dupT (p.Ile352Tyrfs) rs587781984
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1110C>G (p.Tyr370Ter) rs376170600
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1124delG (p.Arg375Lysfs) rs1555069653
NM_000051.3(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.3(ATM):c.1139_1142dupACAG (p.Ser381Argfs) rs886041340
NM_000051.3(ATM):c.1140_1141delCA (p.Tyr380Terfs) rs1555069677
NM_000051.3(ATM):c.1158delG (p.Lys387Argfs) rs587782085
NM_000051.3(ATM):c.1179_1180delGG (p.Trp393Terfs) rs876659450
NM_000051.3(ATM):c.1212_1213delGA (p.Asn405Terfs) rs1060501609
NM_000051.3(ATM):c.1215delT (p.Asn405Lysfs) rs1555069815
NM_000051.3(ATM):c.1221dup (p.Asp408Terfs) rs1064792998
NM_000051.3(ATM):c.1236-2A>G rs80159221
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1284_1291delTAACTGTG (p.Asn429Alafs) rs863224460
NM_000051.3(ATM):c.1290_1291delTG (p.Cys430Terfs) rs587781598
NM_000051.3(ATM):c.1320_1321delTC (p.Gln441Alafs) rs1555070745
NM_000051.3(ATM):c.1333delC (p.Gln445Asnfs) rs1060501701
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1348delG (p.Glu450Asnfs)
NM_000051.3(ATM):c.1355delC (p.Thr452Asnfs) rs587781776
NM_000051.3(ATM):c.1368dup (p.Arg457Thrfs)
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.138_141delTTCA (p.His46Glnfs) rs786203370
NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) rs876660485
NM_000051.3(ATM):c.1402_1403delAA (p.Lys468Glufs) rs587781347
NM_000051.3(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.3(ATM):c.1435_1436delGA (p.Asp479Phefs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1446delA (p.Lys482Asnfs) rs1060501670
NM_000051.3(ATM):c.1463G>A (p.Trp488Ter) rs879254093
NM_000051.3(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.3(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.3(ATM):c.1514_1515delTT (p.Phe505Trpfs) rs1060501529
NM_000051.3(ATM):c.1524delT (p.Gly509Glufs) rs786204737
NM_000051.3(ATM):c.1547T>A (p.Leu516Ter)
NM_000051.3(ATM):c.1547T>G (p.Leu516Ter) rs786202195
NM_000051.3(ATM):c.1564_1565delGA (p.Glu522Ilefs) rs587779817
NM_000051.3(ATM):c.1573A>T (p.Lys525Ter)
NM_000051.3(ATM):c.1597_1600dup (p.Pro534Glnfs) rs1131691166
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1745_1749del (p.Phe582Serfs)
NM_000051.3(ATM):c.1838dup (p.Ser614Glufs) rs1555072492
NM_000051.3(ATM):c.1839_1842delGAGT (p.Thr616Terfs) rs1555072480
NM_000051.3(ATM):c.1898+1G>A
NM_000051.3(ATM):c.1898+1G>T rs758325274
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1914_1929dup16 (p.Ser644Argfs) rs864622415
NM_000051.3(ATM):c.1915_1916insT (p.Asp639Valfs) rs1060501610
NM_000051.3(ATM):c.1920_1923delAGAA (p.Glu641Asnfs) rs1555073111
NM_000051.3(ATM):c.192delA (p.Leu64Phefs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
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.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2113delT (p.Tyr705Thrfs) rs863224822
NM_000051.3(ATM):c.217_218delGA (p.Glu73Metfs)
NM_000051.3(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.3(ATM):c.2201_2202insC (p.Ile735Asnfs) rs1459299108
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2251-1G>C rs876659710
NM_000051.3(ATM):c.2270delG (p.Gly757Glufs)
NM_000051.3(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.3(ATM):c.2284_2285delCT (p.Leu762Valfs) rs587781658
NM_000051.3(ATM):c.2289_2295del (p.Phe763Leufs) rs1555075690
NM_000051.3(ATM):c.2295delT (p.Asn765Lysfs) rs876658583
NM_000051.3(ATM):c.229dup (p.Ile77Asnfs)
NM_000051.3(ATM):c.2301_2304delAAAT (p.Asn768Argfs)
NM_000051.3(ATM):c.2308G>T (p.Glu770Ter) rs1555075721
NM_000051.3(ATM):c.2341C>T (p.Gln781Ter) rs1555075781
NM_000051.3(ATM):c.2377_2378dupAA (p.Ser794Argfs) rs1057516980
NM_000051.3(ATM):c.237delA (p.Lys79Asnfs) rs730881303
NM_000051.3(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.3(ATM):c.2466+1delG rs786202783
NM_000051.3(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.3(ATM):c.2502dupA (p.Val835Serfs) rs587779822
NM_000051.3(ATM):c.2521delG (p.Asp841Ilefs) rs1175457710
NM_000051.3(ATM):c.2524dup (p.Thr842Asnfs) rs1555082160
NM_000051.3(ATM):c.2554C>T (p.Gln852Ter) rs758081262
NM_000051.3(ATM):c.2620G>T (p.Glu874Ter)
NM_000051.3(ATM):c.2638+2T>C rs587779826
NM_000051.3(ATM):c.2654T>G (p.Leu885Ter) rs1555083096
NM_000051.3(ATM):c.2654_2656delTAGinsAA (p.Leu885Terfs) rs1060501679
NM_000051.3(ATM):c.2672C>G (p.Ser891Ter) rs876660780
NM_000051.3(ATM):c.2677C>T (p.Gln893Ter) rs1555083131
NM_000051.3(ATM):c.2693T>G (p.Leu898Ter) rs770610463
NM_000051.3(ATM):c.2700dup (p.Leu901Alafs) rs1555083198
NM_000051.3(ATM):c.2720_2723delGTGT (p.Cys907Terfs) rs786202695
NM_000051.3(ATM):c.2727delT (p.Thr910Leufs) rs1555083267
NM_000051.3(ATM):c.2754delT (p.Phe918Leufs) rs786202608
NM_000051.3(ATM):c.2775delG (p.Lys926Asnfs) rs1060501702
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.2839-?_4109+?del
NM_000051.3(ATM):c.2880delC (p.Leu961Cysfs) rs730881300
NM_000051.3(ATM):c.289delA (p.Ile97Serfs) rs878853497
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2921+1G>C rs587781558
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.2922-50_2938del67 rs1555084836
NM_000051.3(ATM):c.2930_2931delGT (p.Cys977Phefs) rs1555084947
NM_000051.3(ATM):c.2938delT (p.Tyr980Ilefs)
NM_000051.3(ATM):c.2985_2988delTCAT (p.His996Terfs) rs1060501600
NM_000051.3(ATM):c.299T>A (p.Leu100Ter)
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3044_3045delAA (p.Gln1015Argfs) rs1555085217
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3078G>A (p.Trp1026Ter) rs876660869
NM_000051.3(ATM):c.3085dupA (p.Thr1029Asnfs) rs876658502
NM_000051.3(ATM):c.311delT (p.Phe104Serfs) rs1555055309
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3167C>A (p.Ser1056Ter)
NM_000051.3(ATM):c.3206delC (p.Pro1069Leufs) rs1060501677
NM_000051.3(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687
NM_000051.3(ATM):c.3218dupT (p.Phe1074Ilefs) rs876660741
NM_000051.3(ATM):c.3242_3245delATCA (p.Asn1081Ilefs) rs1060501587
NM_000051.3(ATM):c.3245_3247delATCinsTGAT (p.His1082Leufs) rs587776549
NM_000051.3(ATM):c.3252_3259delAGTTCGCA (p.Gln1084Hisfs) rs876658402
NM_000051.3(ATM):c.3261delG (p.Met1087Ilefs)
NM_000051.3(ATM):c.3272_3273del (p.Glu1091Valfs)
NM_000051.3(ATM):c.3281delA (p.Asn1094Ilefs)
NM_000051.3(ATM):c.3320T>A (p.Leu1107Ter) rs1060501711
NM_000051.3(ATM):c.3349C>T (p.Gln1117Ter) rs786201957
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3381_3384delTCAG (p.Gln1128Lysfs) rs587781971
NM_000051.3(ATM):c.3382C>T (p.Gln1128Ter) rs876659825
NM_000051.3(ATM):c.3436G>T (p.Glu1146Ter)
NM_000051.3(ATM):c.3450_3454delAAAAT (p.Arg1150Serfs) rs1060501676
NM_000051.3(ATM):c.3480_3492dup (p.Ser1165Glyfs) rs1555091238
NM_000051.3(ATM):c.3510dupA (p.Gln1171Thrfs) rs876658899
NM_000051.3(ATM):c.3511_3512dup (p.Gln1171Hisfs) rs1555091302
NM_000051.3(ATM):c.3520_3523delTTTG (p.Phe1174Profs)
NM_000051.3(ATM):c.3539_3540delTG (p.Val1180Glufs) rs1555091367
NM_000051.3(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.3(ATM):c.3577-9_3583del rs1555092219
NM_000051.3(ATM):c.3602_3603delTT (p.Phe1201Trpfs) rs1057517129
NM_000051.3(ATM):c.3626_3627delTT (p.Phe1209Tyrfs) rs587782861
NM_000051.3(ATM):c.3627delT (p.Phe1209Leufs) rs587782861
NM_000051.3(ATM):c.3663G>A (p.Trp1221Ter) rs864622490
NM_000051.3(ATM):c.3673C>T (p.Gln1225Ter) rs1555092430
NM_000051.3(ATM):c.368delA (p.Tyr123Leufs) rs730881296
NM_000051.3(ATM):c.3693_3697delATCTT (p.Leu1231Phefs) rs1555092477
NM_000051.3(ATM):c.3712_3716delTTATT (p.Leu1238Lysfs) rs786201675
NM_000051.3(ATM):c.3754_3756delTATinsCA (p.Tyr1252Glnfs) rs786201886
NM_000051.3(ATM):c.3756_3757dup (p.Lys1253Ilefs) rs1555093289
NM_000051.3(ATM):c.3760delG (p.Val1254Phefs) rs786203507
NM_000051.3(ATM):c.378delT (p.Asp126Glufs) rs587781449
NM_000051.3(ATM):c.3802delG (p.Val1268Terfs) rs587779834
NM_000051.3(ATM):c.381delA (p.Val128Terfs) rs587781831
NM_000051.3(ATM):c.3850delA (p.Thr1284Glnfs) rs876660865
NM_000051.3(ATM):c.3894dupT (p.Ala1299Cysfs) rs587781823
NM_000051.3(ATM):c.3935dupG (p.Glu1313Argfs) rs876659672
NM_000051.3(ATM):c.3980T>G (p.Leu1327Ter) rs587782192
NM_000051.3(ATM):c.3993+1G>A rs200196781
NM_000051.3(ATM):c.3G>A (p.Met1Ile) rs781404312
NM_000051.3(ATM):c.4019_4029delTACCAGAGATT (p.Leu1340Cysfs) rs1057517140
NM_000051.3(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.3(ATM):c.4052T>A (p.Leu1351Ter)
NM_000051.3(ATM):c.4052delT (p.Leu1351Tyrfs) rs786202350
NM_000051.3(ATM):c.4056_4065delTGAGCCAGCA (p.His1352Glnfs) rs1555095955
NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.3(ATM):c.4087delA (p.Thr1363Leufs) rs1555096035
NM_000051.3(ATM):c.4098_4099delTG (p.Cys1366Terfs) rs876658248
NM_000051.3(ATM):c.4101delC (p.Ser1369Glnfs)
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4110-1G>A rs1060501692
NM_000051.3(ATM):c.4143dupT (p.Pro1382Serfs) rs730881309
NM_000051.3(ATM):c.4198A>T (p.Lys1400Ter) rs587781950
NM_000051.3(ATM):c.4202T>A (p.Leu1401Ter) rs1555096975
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.432delA (p.Leu145Tyrfs) rs1555059333
NM_000051.3(ATM):c.4330_4333delCTGTinsTAAAATAAA (p.Leu1444Terfs) rs1064792938
NM_000051.3(ATM):c.4343_4344delTAinsGTT (p.Leu1448Cysfs)
NM_000051.3(ATM):c.4344dup (p.Leu1449Ilefs) rs1555097604
NM_000051.3(ATM):c.4373delG (p.Gly1458Glufs) rs587781653
NM_000051.3(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.3(ATM):c.43delC (p.Leu15Terfs) rs771887195
NM_000051.3(ATM):c.4415T>A (p.Leu1472Ter) rs772555314
NM_000051.3(ATM):c.4450_4451delAT (p.Met1484Glyfs)
NM_000051.3(ATM):c.4493T>G (p.Leu1498Ter) rs1329359780
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.450_453delTTCT (p.Ser151Terfs) rs771936821
NM_000051.3(ATM):c.4522dupT (p.Tyr1508Leufs) rs1555099888
NM_000051.3(ATM):c.4579delC (p.Val1528Cysfs)
NM_000051.3(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.3(ATM):c.4588G>T (p.Glu1530Ter) rs864622479
NM_000051.3(ATM):c.4609C>T (p.Gln1537Ter) rs1555100037
NM_000051.3(ATM):c.4632_4635delCTTA (p.Tyr1544Terfs) rs1064794236
NM_000051.3(ATM):c.4642_4645delGATA (p.Asp1548Thrfs) rs876659535
NM_000051.3(ATM):c.4661delA (p.Asn1554Thrfs) rs1064793390
NM_000051.3(ATM):c.467G>A (p.Trp156Ter)
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581Asnfs) rs864622164
NM_000051.3(ATM):c.4776+2T>C rs587781927
NM_000051.3(ATM):c.4776+2_4776+13delTAATAAAAATTT rs762838462
NM_000051.3(ATM):c.478_482delTCTCA (p.Ser160Alafs) rs587780624
NM_000051.3(ATM):c.4800_4803delAAGT (p.Ser1601Phefs) rs1060501659
NM_000051.3(ATM):c.4804_4805delGT (p.Val1602Leufs) rs864622290
NM_000051.3(ATM):c.484C>T (p.Gln162Ter)
NM_000051.3(ATM):c.4852C>T (p.Arg1618Ter) rs762083530
NM_000051.3(ATM):c.4906C>T (p.Gln1636Ter) rs1060501627
NM_000051.3(ATM):c.4909+1G>A rs756987454
NM_000051.3(ATM):c.4909+1G>T
NM_000051.3(ATM):c.492dup (p.Leu165Valfs) rs1555059513
NM_000051.3(ATM):c.4938delA (p.Lys1646Asnfs) rs587781754
NM_000051.3(ATM):c.4957C>T (p.Gln1653Ter)
NM_000051.3(ATM):c.496G>T (p.Glu166Ter)
NM_000051.3(ATM):c.4988delG (p.Gly1663Valfs)
NM_000051.3(ATM):c.5015delG (p.Gly1672Glufs) rs864622662
NM_000051.3(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.3(ATM):c.5102_5106delAGTTA (p.Lys1701Ilefs) rs1555104693
NM_000051.3(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.3(ATM):c.5177+1G>A rs1131691159
NM_000051.3(ATM):c.5184dup (p.Val1729Serfs) rs1555105588
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5203dupA (p.Thr1735Asnfs) rs878853518
NM_000051.3(ATM):c.5209_5210delTT (p.Leu1737Glufs) rs1555105660
NM_000051.3(ATM):c.5249G>A (p.Trp1750Ter) rs1060501669
NM_000051.3(ATM):c.5290delC (p.Leu1764Tyrfs) rs587779846
NM_000051.3(ATM):c.5320-5_5320-2delTCTA rs730881310
NM_000051.3(ATM):c.538C>T (p.Gln180Ter) rs730881333
NM_000051.3(ATM):c.5405dup (p.His1802Glnfs) rs1555106452
NM_000051.3(ATM):c.5443delG (p.Asp1815Thrfs) rs878853522
NM_000051.3(ATM):c.5460dupA (p.Cys1821Metfs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.549_550delTA (p.His183Glnfs) rs730881297
NM_000051.3(ATM):c.5511_5512delTT (p.Phe1837Leufs) rs1555107263
NM_000051.3(ATM):c.5515C>T (p.Gln1839Ter) rs786204751
NM_000051.3(ATM):c.5549T>A (p.Leu1850Ter) rs878853525
NM_000051.3(ATM):c.5554dup (p.Gln1852Profs) rs1555107356
NM_000051.3(ATM):c.5573G>A (p.Trp1858Ter) rs879254076
NM_000051.3(ATM):c.557T>G (p.Leu186Ter) rs1555066388
NM_000051.3(ATM):c.5623C>T (p.Arg1875Ter) rs376603775
NM_000051.3(ATM):c.5631_5635delCTCGCinsA (p.Phe1877Leufs) rs758852420
NM_000051.3(ATM):c.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5653dupA (p.Thr1885Asnfs) rs587778077
NM_000051.3(ATM):c.5681_5682delAG (p.Glu1894Alafs) rs1060501580
NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.3(ATM):c.5712dupA (p.Ser1905Ilefs) rs587781730
NM_000051.3(ATM):c.5718_5719delAA (p.Arg1907Asnfs) rs1555109102
NM_000051.3(ATM):c.597T>A (p.Cys199Ter)
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.640delT (p.Ser214Profs) rs786204543
NM_000051.3(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.680C>G (p.Ser227Ter)
NM_000051.3(ATM):c.710delC (p.Thr237Ilefs) rs1060501642
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.3(ATM):c.756_757delTG (p.Cys252Terfs) rs876659003
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.790delT (p.Tyr264Ilefs) rs587781978
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.824delT (p.Leu275Terfs) rs864622389
NM_000051.3(ATM):c.8269-?_8671+?del
NM_000051.3(ATM):c.8delT (p.Leu3Glnfs) rs879254052
NM_000051.3(ATM):c.901+1G>A rs748840480
NM_000051.3(ATM):c.901+2delinsAA rs1555067355
NM_000051.3(ATM):c.902-1G>T rs1064793518
NM_000051.3(ATM):c.947_951delATGAT (p.Tyr316Serfs)
NM_000051.3(ATM):c.977_978delTA (p.Ile326Argfs) rs876658832
NM_000051.3(ATM):c.978delA (p.Ile326Metfs)
NM_000051.3(ATM):c.992delA (p.Lys331Serfs) rs1060501684
c.1120C>T
c.2249ins9
c.2639del200nt
c.2810_2811insCTAG
c.2851-10T>G
c.3576G>A
c.3802delG
c.3894dupT
c.4507C>T
c.4852C>T
c.5390+2T>C
c.5395-12A>G
c.5908C>T
c.5932G>T
c.6095G>A
c.6404_6405insTT
c.7010_7011del
c.7271T>G
c.7327C>T
c.7449G>A
c.7883_7887del5
c.7926A>C
c.8264_8268del5
c.8313-2A>C
c.9372+1G>A

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