ClinVar Miner

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

Included ClinVar conditions (106):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 588
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.(?_108223043)_(108249112_?)del
NC_000011.10:g.(?_108227615)_(108229333_?)del
NC_000011.10:g.(?_108227619)_(108227894_?)del
NC_000011.10:g.(?_108227625)_(108245036_?)del
NC_000011.10:g.(?_108227625)_(108365508_?)del
NC_000011.10:g.(?_108235660)_(108284483_?)del
NC_000011.10:g.(?_108246954)_(108247137_?)del
NC_000011.10:g.(?_108248923)_(108249112_?)del
NC_000011.10:g.(?_108248923)_(108272862_?)del
NC_000011.10:g.(?_108250691)_(108254049_?)del
NC_000011.10:g.(?_108250691)_(108257616_?)del
NC_000011.10:g.(?_108267161)_(108272862_?)del
NC_000011.10:g.(?_108267161)_(108307994_?)del
NC_000011.10:g.(?_108279481)_(108281178_?)del
NC_000011.10:g.(?_108280983)_(108365508_?)del
NC_000011.10:g.(?_108280985)_(108287725_?)del
NC_000011.10:g.(?_108280995)_(108289801_?)del
NC_000011.10:g.(?_108282700)_(108287725_?)del
NC_000011.10:g.(?_108287594)_(108287721_?)del
NC_000011.10:g.(?_108289582)_(108289821_?)del
NC_000011.10:g.(?_108289592)_(108289811_?)del
NC_000011.10:g.(?_108289602)_(108289801_?)del
NC_000011.10:g.(?_108292609)_(108293487_?)del
NC_000011.10:g.(?_108307887)_(108365508_?)del
NC_000011.10:g.(?_108325300)_(108347375_?)del
NC_000011.10:g.(?_108325300)_(108365508_?)del
NC_000011.10:g.(?_108353756)_(108354884_?)del
NC_000011.10:g.(?_108365010)_(108365542_?)del
NC_000011.10:g.(?_108365072)_(108365508_?)del
NC_000011.10:g.108151767_108183227del
NC_000011.10:g.108240425_108244667del
NC_000011.10:g.108353766del
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.1017del (p.Ile339fs) rs1469427343
NM_000051.3(ATM):c.1027_1030delGAAA rs587780612
NM_000051.3(ATM):c.1036del (p.Ile346fs) rs1565375710
NM_000051.3(ATM):c.1045_1052del (p.Met349fs) rs1565375817
NM_000051.3(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.3(ATM):c.1058_1059del (p.Cys353fs) rs1555068609
NM_000051.3(ATM):c.1063C>T (p.Gln355Ter) rs1555068615
NM_000051.3(ATM):c.1093G>T (p.Glu365Ter) rs1555069577
NM_000051.3(ATM):c.1109dup (p.Tyr370Ter) rs1555069617
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.1124del (p.Arg375fs) rs1555069653
NM_000051.3(ATM):c.1126G>T (p.Glu376Ter) rs1555069657
NM_000051.3(ATM):c.1139_1142dup (p.Ser381fs) rs886041340
NM_000051.3(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer) rs1555069677
NM_000051.3(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.3(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.3(ATM):c.1208C>A (p.Ser403Ter) rs747563556
NM_000051.3(ATM):c.1212_1213del (p.Gln404_Asn405insTer) rs1060501609
NM_000051.3(ATM):c.1221dup (p.Asp408Ter) rs1064792998
NM_000051.3(ATM):c.1235+3A>G rs1417190414
NM_000051.3(ATM):c.1235G>A (p.Trp412Ter) rs587779813
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1284_1291del (p.Asn429fs) rs863224460
NM_000051.3(ATM):c.1304T>G (p.Leu435Ter) rs1565382166
NM_000051.3(ATM):c.1321C>T (p.Gln441Ter) rs1565382267
NM_000051.3(ATM):c.1333del (p.Gln445fs) rs1060501701
NM_000051.3(ATM):c.1339C>T (p.Arg447Ter) rs587779815
NM_000051.3(ATM):c.1348del (p.Glu450fs) rs758004668
NM_000051.3(ATM):c.1355del (p.Thr452fs) rs587781776
NM_000051.3(ATM):c.1368dup (p.Arg457fs) rs1565382593
NM_000051.3(ATM):c.1369C>T (p.Arg457Ter) rs749036865
NM_000051.3(ATM):c.138_141del (p.His46fs) rs786203370
NM_000051.3(ATM):c.1396C>T (p.Gln466Ter) rs876660485
NM_000051.3(ATM):c.140C>G (p.Ser47Ter) rs774185390
NM_000051.3(ATM):c.1435_1436del (p.Asp479fs) rs1555070947
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1446del (p.Lys482fs) rs1060501670
NM_000051.3(ATM):c.1463G>A (p.Trp488Ter) rs879254093
NM_000051.3(ATM):c.1501C>T (p.Gln501Ter) rs1281817400
NM_000051.3(ATM):c.1514_1515del (p.Phe505fs) rs1060501529
NM_000051.3(ATM):c.151C>T (p.Gln51Ter) rs786203888
NM_000051.3(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.3(ATM):c.1547T>A (p.Leu516Ter) rs786202195
NM_000051.3(ATM):c.1547T>G (p.Leu516Ter) rs786202195
NM_000051.3(ATM):c.1573A>T (p.Lys525Ter) rs1565383766
NM_000051.3(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.3(ATM):c.1597_1600dup (p.Pro534fs) rs1131691166
NM_000051.3(ATM):c.15dup (p.Asn6Ter) rs876660842
NM_000051.3(ATM):c.1607+1G>T rs772926890
NM_000051.3(ATM):c.1655del (p.Pro552fs) rs1057516876
NM_000051.3(ATM):c.1660del (p.Thr554fs) rs876658572
NM_000051.3(ATM):c.170G>A (p.Trp57Ter) rs587779818
NM_000051.3(ATM):c.1737G>A (p.Trp579Ter) rs786201689
NM_000051.3(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.3(ATM):c.1753_1756del (p.Leu585fs) rs1555072008
NM_000051.3(ATM):c.1754dup (p.Leu585fs) rs1555072012
NM_000051.3(ATM):c.1772dup (p.Asn591fs) rs1591528248
NM_000051.3(ATM):c.1838dup (p.Ser614fs) rs1555072492
NM_000051.3(ATM):c.1839_1842del (p.Leu615_Thr616insTer) rs1555072480
NM_000051.3(ATM):c.1880dup (p.Gln628fs) rs786202474
NM_000051.3(ATM):c.1898+1G>A rs758325274
NM_000051.3(ATM):c.1898+1G>T rs758325274
NM_000051.3(ATM):c.1898+2T>G rs587782124
NM_000051.3(ATM):c.1915_1916insT (p.Asp639fs) rs1060501610
NM_000051.3(ATM):c.1918A>T (p.Lys640Ter) rs879254190
NM_000051.3(ATM):c.191T>G (p.Leu64Ter) rs1591451354
NM_000051.3(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1931C>G (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.1939G>T (p.Glu647Ter) rs1060501599
NM_000051.3(ATM):c.1995del (p.Ile665fs) rs1591534382
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.2019del (p.Lys673fs) rs1591534511
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.2113del (p.Tyr705fs) rs863224822
NM_000051.3(ATM):c.2116_2117del (p.Ser706fs) rs1591535064
NM_000051.3(ATM):c.2119_2123del (p.Ser707fs) rs1555073529
NM_000051.3(ATM):c.2125del (p.Ile709fs) rs1057517248
NM_000051.3(ATM):c.2134del (p.Ser712fs) rs1591541888
NM_000051.3(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.3(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.3(ATM):c.2193C>A (p.Tyr731Ter) rs2229019
NM_000051.3(ATM):c.2201_2202insC (p.Ile735fs) 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.2270del (p.Gly757fs) rs1565397022
NM_000051.3(ATM):c.2272G>T (p.Glu758Ter) rs1555075658
NM_000051.3(ATM):c.2286_2287del (p.Leu762_Phe763insTer) rs1064795831
NM_000051.3(ATM):c.2289_2295del (p.Phe763fs) rs1555075690
NM_000051.3(ATM):c.2295del (p.Asn765fs) rs876658583
NM_000051.3(ATM):c.229dup (p.Ile77fs) rs1565346867
NM_000051.3(ATM):c.2301_2304del (p.Asn768fs) rs1565397179
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_2378dup (p.Ser794fs) rs1057516980
NM_000051.3(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.3(ATM):c.2426C>A (p.Ser809Ter) rs730881348
NM_000051.3(ATM):c.2466+1G>A rs914092098
NM_000051.3(ATM):c.2466+1del rs786202783
NM_000051.3(ATM):c.2483del (p.Lys828fs) rs1064794234
NM_000051.3(ATM):c.2497G>T (p.Gly833Ter) rs876658804
NM_000051.3(ATM):c.2500G>T (p.Glu834Ter) rs876660430
NM_000051.3(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.3(ATM):c.2508dup (p.Ser837fs) rs770396940
NM_000051.3(ATM):c.2524dup (p.Thr842fs) rs1555082160
NM_000051.3(ATM):c.2534del (p.Asn845fs) rs1591587673
NM_000051.3(ATM):c.2554C>T (p.Gln852Ter) rs758081262
NM_000051.3(ATM):c.2583C>A (p.Tyr861Ter) rs886039633
NM_000051.3(ATM):c.2613dup (p.Pro872fs) rs1591588646
NM_000051.3(ATM):c.2620G>T (p.Glu874Ter) rs1565416901
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_2656delinsAA (p.Leu885_Ala886delinsTer) 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.Leu901fs) rs1555083198
NM_000051.3(ATM):c.2727del (p.Thr910fs) rs1555083267
NM_000051.3(ATM):c.2730_2731insAG (p.Ala911fs) rs1064794437
NM_000051.3(ATM):c.2734C>T (p.Gln912Ter) rs764409952
NM_000051.3(ATM):c.2749dup (p.Ser917fs) rs1555083315
NM_000051.3(ATM):c.2754del (p.Phe918fs) rs786202608
NM_000051.3(ATM):c.2775del (p.Lys926fs) rs1060501702
NM_000051.3(ATM):c.2789T>G (p.Leu930Ter) rs786203309
NM_000051.3(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.3(ATM):c.2817del (p.Lys940fs) rs1555083435
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.2877C>A (p.Tyr959Ter) rs1057517253
NM_000051.3(ATM):c.2880del (p.Leu961fs) rs730881300
NM_000051.3(ATM):c.289del (p.Ile97fs) 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_2938del rs1555084836
NM_000051.3(ATM):c.2985_2988del (p.Leu995_His996insTer) rs1060501600
NM_000051.3(ATM):c.299T>A (p.Leu100Ter) rs761936549
NM_000051.3(ATM):c.2T>C (p.Met1Thr) rs786203606
NM_000051.3(ATM):c.3024dup (p.Glu1009Ter) rs1555085172
NM_000051.3(ATM):c.3043C>T (p.Gln1015Ter) rs1555085210
NM_000051.3(ATM):c.3044_3045del (p.Gln1015fs) rs1555085217
NM_000051.3(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.3(ATM):c.3077G>A (p.Trp1026Ter) rs587782103
NM_000051.3(ATM):c.3078-1G>A rs750663117
NM_000051.3(ATM):c.3078G>A (p.Trp1026Ter) rs876660869
NM_000051.3(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.3(ATM):c.311del (p.Phe104fs) rs1555055309
NM_000051.3(ATM):c.3154-2A>G rs730881357
NM_000051.3(ATM):c.3167C>A (p.Ser1056Ter) rs1565428419
NM_000051.3(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687
NM_000051.3(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.3(ATM):c.3231dup (p.Leu1078fs) rs1057517097
NM_000051.3(ATM):c.3242_3245del (p.Asn1081fs) rs1060501587
NM_000051.3(ATM):c.3250C>T (p.Gln1084Ter) rs1386063673
NM_000051.3(ATM):c.3252_3259del (p.Gln1084fs) rs876658402
NM_000051.3(ATM):c.3261del (p.Met1087fs) rs1565429054
NM_000051.3(ATM):c.3270_3271AG[1] (p.Glu1091fs) rs1565429102
NM_000051.3(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.3(ATM):c.3281del (p.Asn1094fs) rs776516754
NM_000051.3(ATM):c.3285-2A>G rs1591631876
NM_000051.3(ATM):c.3285-2_3296dup rs1591631866
NM_000051.3(ATM):c.331+5G>A rs752135143
NM_000051.3(ATM):c.3315dup (p.Arg1106fs) rs1057516301
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_3384del (p.Gln1128fs) rs587781971
NM_000051.3(ATM):c.3382C>T (p.Gln1128Ter) rs876659825
NM_000051.3(ATM):c.3388G>T (p.Gly1130Ter) rs587781911
NM_000051.3(ATM):c.3435_3436delinsA (p.Asp1145fs) rs886039632
NM_000051.3(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.3(ATM):c.3436G>T (p.Glu1146Ter) rs1565441511
NM_000051.3(ATM):c.3450_3454del (p.Arg1150fs) rs1060501676
NM_000051.3(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer) rs1555091238
NM_000051.3(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.3(ATM):c.3510dup (p.Gln1171fs) rs876658899
NM_000051.3(ATM):c.3511C>T (p.Gln1171Ter) rs876659067
NM_000051.3(ATM):c.3511_3512dup (p.Gln1171fs) rs1555091302
NM_000051.3(ATM):c.3526del (p.Leu1176fs) rs730881302
NM_000051.3(ATM):c.3538del (p.Ser1179_Val1180insTer) rs1555091370
NM_000051.3(ATM):c.3541A>T (p.Lys1181Ter) rs1057516981
NM_000051.3(ATM):c.3577-9_3583del rs1555092219
NM_000051.3(ATM):c.357dup (p.Leu120fs) rs1591474530
NM_000051.3(ATM):c.3602_3603del (p.Phe1201fs) rs1057517129
NM_000051.3(ATM):c.3609del (p.Gly1202_Tyr1203insTer) rs1555092297
NM_000051.3(ATM):c.3627del (p.Phe1209fs) 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.368del (p.Tyr123fs) rs730881296
NM_000051.3(ATM):c.3693_3697del (p.Leu1231fs) rs1555092477
NM_000051.3(ATM):c.3754_3755TA[3] (p.Lys1253fs) rs1555093289
NM_000051.3(ATM):c.3756T>A (p.Tyr1252Ter) rs886039637
NM_000051.3(ATM):c.3760del (p.Val1254fs) rs786203507
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.3850del (p.Thr1284fs) rs876660865
NM_000051.3(ATM):c.3865A>T (p.Lys1289Ter) rs1131691160
NM_000051.3(ATM):c.387del (p.Asp130fs) rs745642834
NM_000051.3(ATM):c.3880dup (p.Ile1294fs) rs1057516541
NM_000051.3(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.3(ATM):c.392C>G (p.Ser131Ter) rs1363726955
NM_000051.3(ATM):c.3935dup (p.Glu1313fs) rs876659672
NM_000051.3(ATM):c.3952del (p.Val1318fs) rs1591646354
NM_000051.3(ATM):c.3955_3958dup (p.Asp1320delinsValTer) rs1591646379
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.4011del (p.Ser1338fs) rs1591655633
NM_000051.3(ATM):c.4019_4029del (p.Leu1340fs) rs1057517140
NM_000051.3(ATM):c.4036G>T (p.Glu1346Ter) rs1060501528
NM_000051.3(ATM):c.4040T>A (p.Leu1347Ter) rs1565452621
NM_000051.3(ATM):c.4052T>A (p.Leu1351Ter) rs1565452687
NM_000051.3(ATM):c.4052del (p.Leu1351fs) rs786202350
NM_000051.3(ATM):c.4056_4065del (p.His1352fs) rs1555095955
NM_000051.3(ATM):c.4081C>T (p.Gln1361Ter) rs121434222
NM_000051.3(ATM):c.4087del (p.Thr1363fs) rs1555096035
NM_000051.3(ATM):c.4101del (p.Ser1369fs) rs1565453029
NM_000051.3(ATM):c.4106C>A (p.Ser1369Ter) rs1057520640
NM_000051.3(ATM):c.4110-1G>A rs1060501692
NM_000051.3(ATM):c.4111delG rs797045114
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.4227del (p.Ser1411fs) rs587782054
NM_000051.3(ATM):c.4280del (p.Ala1427fs) rs1591662758
NM_000051.3(ATM):c.4303A>T (p.Lys1435Ter) rs876660964
NM_000051.3(ATM):c.4318A>T (p.Lys1440Ter) rs1060501551
NM_000051.3(ATM):c.432del (p.Leu145fs) rs1555059333
NM_000051.3(ATM):c.432dup (p.Leu145fs) rs1555059330
NM_000051.3(ATM):c.4344dup (p.Leu1449fs) rs1555097604
NM_000051.3(ATM):c.4370T>G (p.Leu1457Ter) rs373226793
NM_000051.3(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.3(ATM):c.4383G>A (p.Trp1461Ter) rs1294578913
NM_000051.3(ATM):c.43del (p.Gln14_Leu15insTer) rs771887195
NM_000051.3(ATM):c.4402_4403delinsA (p.Val1468fs) rs1591663850
NM_000051.3(ATM):c.4415T>A (p.Leu1472Ter) rs772555314
NM_000051.3(ATM):c.441dup (p.Asp148fs) rs1427164968
NM_000051.3(ATM):c.4436+2T>C rs1555097898
NM_000051.3(ATM):c.4450_4451del (p.Met1484fs) rs1565460896
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.4522dup (p.Tyr1508fs) rs1555099888
NM_000051.3(ATM):c.4579del (p.Val1528fs) rs1565461674
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.4625dup (p.Leu1542fs) rs730881304
NM_000051.3(ATM):c.4661del (p.Asn1554fs) rs1064793390
NM_000051.3(ATM):c.4664del (p.Leu1555fs) rs876659039
NM_000051.3(ATM):c.4669del (p.Ile1557fs) rs1591677254
NM_000051.3(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000051.3(ATM):c.4683_4689del (p.Asp1563fs) rs886039515
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.4741dup (p.Ile1581fs) rs864622164
NM_000051.3(ATM):c.4776+2_4776+13del rs762838462
NM_000051.3(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.3(ATM):c.4800_4803del (p.Ser1601fs) rs1060501659
NM_000051.3(ATM):c.4842_4843insCT (p.Lys1615fs) rs753011366
NM_000051.3(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.3(ATM):c.484C>T (p.Gln162Ter) rs1565357383
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 rs756987454
NM_000051.3(ATM):c.492dup (p.Leu165fs) rs1555059513
NM_000051.3(ATM):c.4938del (p.Lys1646fs) rs587781754
NM_000051.3(ATM):c.4957C>T (p.Gln1653Ter) rs1565469955
NM_000051.3(ATM):c.496G>C (p.Glu166Gln) rs1565357473
NM_000051.3(ATM):c.496G>T (p.Glu166Ter) rs1565357473
NM_000051.3(ATM):c.4988del (p.Gly1663fs) rs1565470139
NM_000051.3(ATM):c.5015del (p.Gly1672fs) rs864622662
NM_000051.3(ATM):c.5065C>T (p.Gln1689Ter) rs1555104609
NM_000051.3(ATM):c.5076del (p.Asp1693fs) rs1591702340
NM_000051.3(ATM):c.50_51del (p.His17fs) rs775561876
NM_000051.3(ATM):c.5102_5106del (p.Lys1701fs) 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.5177+5G>A rs759373136
NM_000051.3(ATM):c.5184dup (p.Val1729fs) rs1555105588
NM_000051.3(ATM):c.5188C>T (p.Arg1730Ter) rs764389018
NM_000051.3(ATM):c.5203dup (p.Thr1735fs) rs878853518
NM_000051.3(ATM):c.5209_5210del (p.Leu1737fs) rs1555105660
NM_000051.3(ATM):c.5249G>A (p.Trp1750Ter) rs1060501669
NM_000051.3(ATM):c.5286_5293del (p.Tyr1763fs) rs1591709001
NM_000051.3(ATM):c.5309C>G (p.Ser1770Ter) rs121434223
NM_000051.3(ATM):c.5318del (p.Lys1773fs) rs876660289
NM_000051.3(ATM):c.5320-5_5320-2del rs730881310
NM_000051.3(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.3(ATM):c.5351del (p.Asn1784fs) rs1057517101
NM_000051.3(ATM):c.5352_5355del (p.Pro1785fs) rs1214541502
NM_000051.3(ATM):c.538C>T (p.Gln180Ter) rs730881333
NM_000051.3(ATM):c.5395dup (p.Ser1799fs) rs1591712447
NM_000051.3(ATM):c.5396del (p.Ser1799fs) rs587782812
NM_000051.3(ATM):c.5405dup (p.His1802fs) rs1555106452
NM_000051.3(ATM):c.5443del (p.Asp1815fs) rs878853522
NM_000051.3(ATM):c.5460dup (p.Cys1821fs) rs1057516760
NM_000051.3(ATM):c.5497-2A>C rs786203796
NM_000051.3(ATM):c.549_550del (p.His183fs) rs730881297
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.5549del (p.Leu1850fs) rs876658287
NM_000051.3(ATM):c.5554C>T (p.Gln1852Ter) rs754562056
NM_000051.3(ATM):c.5554dup (p.Gln1852fs) 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.5644C>T (p.Arg1882Ter) rs786204433
NM_000051.3(ATM):c.5653dup (p.Thr1885fs) rs587778077
NM_000051.3(ATM):c.5692C>T (p.Arg1898Ter) rs775036118
NM_000051.3(ATM):c.5697C>A (p.Cys1899Ter) rs753839301
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.5718_5719del (p.Arg1907fs) rs1555109102
NM_000051.3(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.3(ATM):c.597T>A (p.Cys199Ter) rs1565369633
NM_000051.3(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.664C>T (p.Gln222Ter) rs1555066917
NM_000051.3(ATM):c.67C>T (p.Arg23Ter) rs746235533
NM_000051.3(ATM):c.680C>G (p.Ser227Ter) rs762998620
NM_000051.3(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.3(ATM):c.689del (p.Asn230fs) rs1057518965
NM_000051.3(ATM):c.710del (p.Thr237fs) rs1060501642
NM_000051.3(ATM):c.717_720del (p.Phe239fs) rs587782660
NM_000051.3(ATM):c.72+1G>A rs786204088
NM_000051.3(ATM):c.72+2T>C rs1591446206
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.785T>A (p.Leu262Ter) rs864622163
NM_000051.3(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.3(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.3(ATM):c.824del (p.Ser274_Leu275insTer) rs864622389
NM_000051.3(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer) rs1591504396
NM_000051.3(ATM):c.8269-?_8671+?del
NM_000051.3(ATM):c.829G>T (p.Glu277Ter) rs876660933
NM_000051.3(ATM):c.864del (p.Ile287_Tyr288insTer) rs1565372075
NM_000051.3(ATM):c.875C>T (p.Pro292Leu) rs747727055
NM_000051.3(ATM):c.8del (p.Leu3fs) rs879254052
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
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.929del (p.Ser310fs) rs1591510597
NM_000051.3(ATM):c.947_951del (p.Tyr316fs) rs1565375055
NM_000051.3(ATM):c.967A>G (p.Ile323Val) rs587781511
NM_000051.3(ATM):c.978del (p.Ile326fs) rs1565375308
NM_000051.3(ATM):c.992del (p.Lys331fs) rs1060501684
NM_000051.3:c.8844_8845insLINE1
NM_000051.4(ATM):c.1008del (p.Arg337fs)
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs)
NM_000051.4(ATM):c.1073dup (p.Asn358fs) rs1591517182
NM_000051.4(ATM):c.1151dup (p.Cys384fs)
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter)
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter)
NM_000051.4(ATM):c.1214del (p.Asn405fs)
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)
NM_000051.4(ATM):c.1378dup (p.Thr460fs)
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs)
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs)
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs)
NM_000051.4(ATM):c.1471dup (p.Thr491fs)
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1520_1524del (p.Leu507fs)
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer)
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter)
NM_000051.4(ATM):c.1607+1G>A
NM_000051.4(ATM):c.1653del (p.Pro552fs)
NM_000051.4(ATM):c.1688_1689TG[2] (p.Cys564_Glu565delinsTer)
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter)
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs)
NM_000051.4(ATM):c.1920dup (p.Glu641fs)
NM_000051.4(ATM):c.1937C>A (p.Ser646Ter)
NM_000051.4(ATM):c.1997del (p.Val666fs)
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs)
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)
NM_000051.4(ATM):c.2140del (p.Thr714fs)
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer)
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter)
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)
NM_000051.4(ATM):c.2262del (p.Gln754fs)
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)
NM_000051.4(ATM):c.2345dup (p.Cys783fs) rs1591546645
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs)
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)
NM_000051.4(ATM):c.271C>T (p.Gln91Ter)
NM_000051.4(ATM):c.2758del (p.Ala920fs)
NM_000051.4(ATM):c.2838+1del
NM_000051.4(ATM):c.2926_2927GT[2] (p.Cys977fs) rs1555084947
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter)
NM_000051.4(ATM):c.2999del (p.Asn1000fs)
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs) rs1555085172
NM_000051.4(ATM):c.3099_3100AT[5] (p.Phe1036fs)
NM_000051.4(ATM):c.3181del (p.Asn1062fs)
NM_000051.4(ATM):c.318del (p.Lys106fs) rs1591452378
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)
NM_000051.4(ATM):c.3297del (p.Asp1099fs)
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter)
NM_000051.4(ATM):c.3352del (p.Thr1118fs)
NM_000051.4(ATM):c.3485del (p.Leu1162fs)
NM_000051.4(ATM):c.3489dup (p.Cys1164fs)
NM_000051.4(ATM):c.3516_3519TTTG[1] (p.Phe1174fs) rs1394502687
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)
NM_000051.4(ATM):c.3537_3538TG[1] (p.Val1180fs) rs1555091367
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551
NM_000051.4(ATM):c.3617dup (p.Leu1206fs)
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter)
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer)
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
NM_000051.4(ATM):c.370_374del (p.Ile124fs)
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)
NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter)
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)
NM_000051.4(ATM):c.3783del (p.Arg1262fs)
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs)
NM_000051.4(ATM):c.391dup (p.Ser131fs)
NM_000051.4(ATM):c.3933_3934del (p.Glu1313fs)
NM_000051.4(ATM):c.3935_3936GA[2] (p.Glu1313fs) rs1555093684
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter)
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)
NM_000051.4(ATM):c.4096_4097TG[1] (p.Cys1366_Asp1367delinsTer) rs876658248
NM_000051.4(ATM):c.4115del (p.Leu1372fs)
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs)
NM_000051.4(ATM):c.4189dup (p.His1397fs)
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer)
NM_000051.4(ATM):c.4225del (p.Ser1409fs)
NM_000051.4(ATM):c.422dup (p.Cys141fs)
NM_000051.4(ATM):c.4282del (p.Glu1428fs)
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs)
NM_000051.4(ATM):c.4363del (p.Ser1455fs) rs1591663478
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.444_450del (p.Ile149fs)
NM_000051.4(ATM):c.4493_4494insSVAelement
NM_000051.4(ATM):c.451_452insSVAelement
NM_000051.4(ATM):c.4544dup (p.Asn1515fs)
NM_000051.4(ATM):c.4552_4556del (p.His1518fs)
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)
NM_000051.4(ATM):c.4638_4641GATA[1] (p.Asp1548fs) rs876659535
NM_000051.4(ATM):c.4653_4672dup (p.Thr1558fs)
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)
NM_000051.4(ATM):c.468del (p.Trp156fs)
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4802_4803GT[1] (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer)
NM_000051.4(ATM):c.4864del (p.Glu1622fs)
NM_000051.4(ATM):c.486del (p.Gln162fs)
NM_000051.4(ATM):c.487C>T (p.Gln163Ter) rs1591475608
NM_000051.4(ATM):c.4929del (p.Met1644fs)
NM_000051.4(ATM):c.494T>G (p.Leu165Ter)
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs)
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter) rs1555103301
NM_000051.4(ATM):c.5070del (p.His1690fs)
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs)
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter) rs1591702911
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs)
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)
NM_000051.4(ATM):c.5649del (p.Thr1884fs)
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs) rs1591718522
NM_000051.4(ATM):c.5741del (p.Asp1914fs)
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)
NM_000051.4(ATM):c.614T>G (p.Leu205Ter)
NM_000051.4(ATM):c.621del (p.Lys208fs)
NM_000051.4(ATM):c.709dup (p.Thr237fs)
NM_000051.4(ATM):c.716del (p.Phe239fs)
NM_000051.4(ATM):c.729_741del (p.Leu243fs)
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.76_79del (p.Glu26fs)
NM_000051.4(ATM):c.798G>A (p.Trp266Ter)
NM_000051.4(ATM):c.841G>T (p.Glu281Ter)
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter)
NM_000051.4(ATM):c.892C>T (p.Gln298Ter)
NM_000051.4(ATM):c.943_944del (p.Leu315fs)
NM_000051.4:c.7387_7388insAluYk11
NM_001351834.2(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_001351834.2(ATM):c.1288_1289TG[1] (p.Cys430_Glu431delinsTer) rs587781598
NM_001351834.2(ATM):c.1318_1319TC[1] (p.Gln441fs) rs1555070745
NM_001351834.2(ATM):c.1402_1403del (p.Lys468fs) rs587781347
NM_001351834.2(ATM):c.1562_1563GA[1] (p.Glu522fs) rs587779817
NM_001351834.2(ATM):c.1738_1739CT[1] (p.Leu581fs) rs1131691151
NM_001351834.2(ATM):c.1914_1929dup (p.Ser644delinsArgTer) rs864622415
NM_001351834.2(ATM):c.1920_1923del (p.Glu641fs) rs1555073111
NM_001351834.2(ATM):c.2165dup (p.Leu722fs) rs1057516393
NM_001351834.2(ATM):c.2282_2283CT[1] (p.Leu762fs) rs587781658
NM_001351834.2(ATM):c.2521del (p.Asp841fs) rs1175457710
NM_001351834.2(ATM):c.2718_2719GT[1] (p.Leu906_Cys907insTer) rs786202695
NM_001351834.2(ATM):c.2938del (p.Tyr980fs) rs1565425118
NM_001351834.2(ATM):c.3206del (p.Pro1069fs) rs1060501677
NM_001351834.2(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_001351834.2(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_001351834.2(ATM):c.3707_3711TTATT[1] (p.Leu1238fs) rs786201675
NM_001351834.2(ATM):c.3754_3756delinsCA (p.Tyr1252fs) rs786201886
NM_001351834.2(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_001351834.2(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_001351834.2(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_001351834.2(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_001351834.2(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer) rs1064792938
NM_001351834.2(ATM):c.4343_4344delinsGTT (p.Leu1448fs) rs1565456465
NM_001351834.2(ATM):c.4356_4357TA[1] (p.Ile1453fs) rs1555097650
NM_001351834.2(ATM):c.446_449TTCT[1] (p.Leu150_Ser151insTer) rs771936821
NM_001351834.2(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer) rs1064794236
NM_001351834.2(ATM):c.5290del (p.Leu1764fs) rs587779846
NM_001351834.2(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_001351834.2(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_001351834.2(ATM):c.5679_5680AG[1] (p.Glu1894fs) rs1060501580
NM_001351834.2(ATM):c.964_968del (p.Glu322fs) rs1555068404
NM_001351834.2(ATM):c.975_976TA[1] (p.Ile326fs) rs876658832
Single allele
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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