ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 470
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HGVS dbSNP
NC_000011.10:g.(?_108222832)_(108369099_?)del
NC_000011.10:g.(?_108227615)_(108365518_?)del
NC_000011.10:g.(?_108243943)_(108365518_?)del
NC_000011.10:g.(?_108243953)_(108369099_?)del
NC_000011.10:g.(?_108267151)_(108365528_?)del
NC_000011.10:g.(?_108267161)_(108354884_?)del
NC_000011.10:g.(?_108267161)_(108365518_?)del
NC_000011.10:g.(?_108267165)_(108365514_?)del
NC_000011.10:g.(?_108280985)_(108365518_?)del
NC_000011.10:g.(?_108297287)_(108335961_?)del
NC_000011.10:g.(?_108317363)_(108317531_?)del
NC_000011.10:g.(?_108325310)_(108369099_?)del
NC_000011.10:g.(?_108335912)_(108340340_?)del
NC_000011.10:g.(?_108343212)_(108365518_?)del
NC_000011.10:g.(?_108343222)_(108369099_?)del
NC_000011.10:g.(?_108347269)_(108354884_?)del
NC_000011.10:g.(?_108364109)_(108365518_?)del
NC_000011.10:g.(?_108364109)_(108365528_?)del
NC_000011.10:g.(?_108365072)_(108365518_?)del
NC_000011.10:g.(?_108365076)_(108365514_?)del
NC_000011.10:g.(?_108365082)_(108365508_?)del
NC_000011.9:g.(?_108137888)_(108225611_?)dup
NG_009830.1:g.(41245_49339)_(137044_147250)dup
NM_000051.3(ATM):c.3403-?_*(1_?)del
NM_000051.3(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.3(ATM):c.5825C>T (p.Ala1942Val) rs730881394
NM_000051.3(ATM):c.5853del (p.Phe1952fs) rs1555110418
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.3(ATM):c.5902_5903insSVAelement
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.3(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
NM_000051.3(ATM):c.5935G>T (p.Glu1979Ter) rs1555111763
NM_000051.3(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.3(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.3(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.3(ATM):c.5980A>T (p.Lys1994Ter) rs1565493693
NM_000051.3(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.5982dup (p.Glu1995fs) rs1555111855
NM_000051.3(ATM):c.6002T>G (p.Leu2001Ter) rs1555111910
NM_000051.3(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.3(ATM):c.6007_6029dup
NM_000051.3(ATM):c.6013delinsAA (p.Leu2005fs) rs1555113523
NM_000051.3(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.3(ATM):c.6027C>G (p.Tyr2009Ter) rs1555113567
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.6080del (p.Leu2027fs) rs1060501548
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.3(ATM):c.6090dup (p.Thr2031fs) rs1565499148
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6096-2A>G rs1057520704
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6108T>A (p.Tyr2036Ter) rs3092826
NM_000051.3(ATM):c.6108T>G (p.Tyr2036Ter) rs3092826
NM_000051.3(ATM):c.6115G>T (p.Glu2039Ter) rs864622251
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6177dup (p.Arg2060fs) rs1591779373
NM_000051.3(ATM):c.6181C>T (p.Gln2061Ter) rs1555113845
NM_000051.3(ATM):c.6199-1G>T rs1591788932
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6222C>A (p.Cys2074Ter) rs1565502708
NM_000051.3(ATM):c.6237_6238del (p.Tyr2080fs) rs1555114623
NM_000051.3(ATM):c.6258T>G (p.Tyr2086Ter) rs1565502999
NM_000051.3(ATM):c.6272G>A (p.Trp2091Ter) rs1060501712
NM_000051.3(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.3(ATM):c.6311G>A (p.Trp2104Ter) rs1064794143
NM_000051.3(ATM):c.6312G>A (p.Trp2104Ter) rs1555114766
NM_000051.3(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.3(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.3(ATM):c.6327G>A (p.Trp2109Ter) rs867760244
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6352del (p.Glu2118fs) rs1555116357
NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.3(ATM):c.6403_6404insCT (p.Leu2135fs) rs1555116468
NM_000051.3(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.3(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.3(ATM):c.6444dup (p.Tyr2149fs) rs1555116533
NM_000051.3(ATM):c.6452+1G>T rs1565509194
NM_000051.3(ATM):c.6572+1G>A rs587779856
NM_000051.3(ATM):c.6585_6586del (p.His2195fs) rs1555119004
NM_000051.3(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.3(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536
NM_000051.3(ATM):c.6797_6798delinsC (p.Lys2266fs) rs1555119364
NM_000051.3(ATM):c.6808-242_7516-275del
NM_000051.3(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.3(ATM):c.6839del (p.Gln2280fs) rs1407907917
NM_000051.3(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.3(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.3(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.3(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.3(ATM):c.6976-10_6989del rs587779859
NM_000051.3(ATM):c.6976-2A>C rs587782403
NM_000051.3(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162
NM_000051.3(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.3(ATM):c.7080T>G (p.Tyr2360Ter) rs1555121147
NM_000051.3(ATM):c.7088del (p.Lys2363fs) rs876658512
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.7159_7160insAGCC (p.Phe2387Ter) rs1591150887
NM_000051.3(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.3(ATM):c.7189C>T (p.Gln2397Ter) rs747372355
NM_000051.3(ATM):c.7194C>A (p.Tyr2398Ter) rs1591151199
NM_000051.3(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.3(ATM):c.7240C>T (p.Gln2414Ter) rs863224462
NM_000051.3(ATM):c.7261_7262insT (p.Lys2421fs) rs1591151905
NM_000051.3(ATM):c.7267_7270delinsTAC (p.Glu2423fs) rs1591152021
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7293_7294del (p.Lys2431fs) rs1060501525
NM_000051.3(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
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.7449G>A (p.Trp2483Ter) rs773516672
NM_000051.3(ATM):c.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7517_7520delGAGA rs587781905
NM_000051.3(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.3(ATM):c.7549_7562delinsATG (p.Leu2517fs) rs1591167422
NM_000051.3(ATM):c.7563C>G (p.Tyr2521Ter) rs772228129
NM_000051.3(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
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.7655_7656insGA (p.His2552fs) rs1565533629
NM_000051.3(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.3(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.3(ATM):c.7708G>T (p.Glu2570Ter) rs1555124587
NM_000051.3(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.3(ATM):c.7768C>T (p.Gln2590Ter) rs876659561
NM_000051.3(ATM):c.7777C>T (p.Gln2593Ter) rs781215442
NM_000051.3(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.3(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.3(ATM):c.7889T>A (p.Leu2630Ter) rs1591178998
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
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.8030A>G (p.Tyr2677Cys) rs28942103
NM_000051.3(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.3(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.3(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.3(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8124T>A (p.Asp2708Glu) rs587781990
NM_000051.3(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.3(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.3(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.3(ATM):c.8213T>G (p.Leu2738Ter) rs773889320
NM_000051.3(ATM):c.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.3(ATM):c.8224_8225del (p.Asn2742fs) rs1162534390
NM_000051.3(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8269delG rs1555135341
NM_000051.3(ATM):c.8284C>T (p.Gln2762Ter) rs751574257
NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.3(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.3(ATM):c.8293G>A (p.Gly2765Ser) rs748634900
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.3(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.3(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8373C>G (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.3(ATM):c.8418+5_8418+8del rs730881295
NM_000051.3(ATM):c.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.3(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.3(ATM):c.8431A>T (p.Lys2811Ter) rs1131691158
NM_000051.3(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.3(ATM):c.8432dup (p.Ser2812fs) rs587782558
NM_000051.3(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.3(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.3(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.3(ATM):c.8505C>A (p.Cys2835Ter) rs587781597
NM_000051.3(ATM):c.8545C>T (p.Arg2849Ter) rs587778080
NM_000051.3(ATM):c.8549T>A (p.Leu2850Ter) rs876658716
NM_000051.3(ATM):c.8584+2T>C rs730881326
NM_000051.3(ATM):c.8585-2A>C rs1060501700
NM_000051.3(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer) rs1591273850
NM_000051.3(ATM):c.8641C>T (p.Gln2881Ter) rs1057520672
NM_000051.3(ATM):c.8672-1G>C rs876660088
NM_000051.3(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
NM_000051.3(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.3(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.3(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.3(ATM):c.8781_8786+2del rs1591307438
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8786+1G>C rs17174393
NM_000051.3(ATM):c.8786+1G>T rs17174393
NM_000051.3(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.3(ATM):c.8814_8824del (p.Met2938fs) rs758814126
NM_000051.3(ATM):c.8824C>T (p.Gln2942Ter) rs1591314316
NM_000051.3(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.3(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.3(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.3(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.3(ATM):c.8903T>A (p.Leu2968Ter) rs1555151315
NM_000051.3(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.3(ATM):c.8942del (p.His2981fs) rs786203489
NM_000051.3(ATM):c.8987+1G>C rs786203631
NM_000051.3(ATM):c.8988-1G>A rs730881386
NM_000051.3(ATM):c.8988-1G>C rs730881386
NM_000051.3(ATM):c.8998C>T (p.Gln3000Ter) rs587781698
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.3(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs)
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)
NM_000051.4(ATM):c.5986G>T (p.Glu1996Ter)
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.5992_5993delinsTA (p.Gly1998Ter) rs1591758899
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)
NM_000051.4(ATM):c.6128dup (p.Lys2044fs) rs1591778765
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer)
NM_000051.4(ATM):c.6144_6145AT[1] (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter)
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6212T>A (p.Leu2071Ter) rs1591789046
NM_000051.4(ATM):c.6215del (p.Gly2072fs)
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer)
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)
NM_000051.4(ATM):c.6263dup (p.Asn2088fs)
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)
NM_000051.4(ATM):c.6401_6402CT[1] (p.Leu2135fs)
NM_000051.4(ATM):c.6413_6414GA[1] (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs)
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)
NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter)
NM_000051.4(ATM):c.6606T>A (p.Tyr2202Ter) rs1367617850
NM_000051.4(ATM):c.6629del (p.Gln2210fs)
NM_000051.4(ATM):c.6642delinsGA (p.Asp2214fs)
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs)
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer)
NM_000051.4(ATM):c.6706G>T (p.Glu2236Ter) rs1591129305
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)
NM_000051.4(ATM):c.6743dup (p.Asp2249fs)
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)
NM_000051.4(ATM):c.6772_6773CT[2] (p.Ser2259fs) rs1131691156
NM_000051.4(ATM):c.6863del (p.Val2288fs)
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs)
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)
NM_000051.4(ATM):c.6914_6915AG[1] (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs)
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs) rs1591142418
NM_000051.4(ATM):c.7028del (p.Asn2343fs) rs1591142530
NM_000051.4(ATM):c.7089+1_7089+38del
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)
NM_000051.4(ATM):c.7311_7312CA[3] (p.Val2439fs) rs1591159614
NM_000051.4(ATM):c.7333del (p.Leu2445fs) rs1591159924
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs)
NM_000051.4(ATM):c.7368_7369AG[1] (p.Glu2457fs) rs1591160284
NM_000051.4(ATM):c.7369G>T (p.Glu2457Ter) rs1591160295
NM_000051.4(ATM):c.7376del (p.Arg2459fs)
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)
NM_000051.4(ATM):c.7417del (p.Cys2473fs)
NM_000051.4(ATM):c.7492del (p.Ser2498fs) rs1591161470
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer)
NM_000051.4(ATM):c.7540_7541TA[1] (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7542T>A (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7630-2A>C rs587779866
NM_000051.4(ATM):c.7660del (p.His2554fs)
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7706del (p.Asp2569fs)
NM_000051.4(ATM):c.7729del (p.Glu2576_Val2577insTer)
NM_000051.4(ATM):c.7744A>T (p.Arg2582Ter) rs750224234
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs)
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs)
NM_000051.4(ATM):c.7831_7835del (p.Ser2611fs) rs1591178362
NM_000051.4(ATM):c.7834del (p.Arg2612fs)
NM_000051.4(ATM):c.7836_7837GA[3] (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7881_7885TATTA[1] (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.7914_7915insT (p.Lys2639Ter) rs1591179199
NM_000051.4(ATM):c.7975_7976insSVAelement
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs)
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)
NM_000051.4(ATM):c.8047dup (p.Ile2683fs)
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)
NM_000051.4(ATM):c.8051dup (p.Ser2685fs) rs1591191449
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs)
NM_000051.4(ATM):c.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer)
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer) rs1565543844
NM_000051.4(ATM):c.8258del (p.Cys2753fs)
NM_000051.4(ATM):c.8278del (p.Leu2760fs)
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)
NM_000051.4(ATM):c.8385_8394TTTCAGTGCC[1] (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8414del (p.Met2805fs)
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8438_8439insCT (p.Glu2814fs) rs1591264194
NM_000051.4(ATM):c.8439del (p.Phe2813fs)
NM_000051.4(ATM):c.8481del (p.Gln2828fs)
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8533del (p.Trp2845fs) rs1591265186
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs)
NM_000051.4(ATM):c.8780del (p.Phe2927fs)
NM_000051.4(ATM):c.8786+2T>C
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs)
NM_000051.4(ATM):c.8821_8822TC[1] (p.Gln2942fs) rs1555143538
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)
NM_000051.4(ATM):c.8831_8832CT[1] (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs)
NM_000051.4(ATM):c.8865del (p.Pro2956fs) rs1591384391
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9014dup (p.Ala3006fs) rs1591386748
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)
NM_000051.4(ATM):c.9079_9080del (p.Ser3027fs) rs1591387609
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
NM_000051.4(ATM):c.9091del (p.Gln3031fs)
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)
NM_001330368.2(C11orf65):c.640+20452dup rs1591388094
NM_001330368.2(C11orf65):c.640+20471del rs587779878
NM_001330368.2(C11orf65):c.640+20510del rs1555151928
NM_001330368.2(C11orf65):c.640+20528_640+20538del rs587782847
NM_001330368.2(C11orf65):c.640+20533_640+20540dup rs1555151827
NM_001330368.2(C11orf65):c.640+20543_640+20546del rs1565609008
NM_001330368.2(C11orf65):c.640+20544dup rs879253972
NM_001330368.2(C11orf65):c.640+20580del rs876659235
NM_001330368.2(C11orf65):c.640+20583_640+20584del rs876660022
NM_001330368.2(C11orf65):c.640+20760_640+20771delinsACA rs1064795675
NM_001330368.2(C11orf65):c.640+20761_640+20764dup rs1555151395
NM_001330368.2(C11orf65):c.640+20815dup rs864622669
NM_001330368.2(C11orf65):c.640+20816_640+20817del rs864622669
NM_001330368.2(C11orf65):c.640+31075_640+31078dup rs876658959
NM_001330368.2(C11orf65):c.640+31095del rs876660567
NM_001330368.2(C11orf65):c.640+32060dup rs876660813
NM_001330368.2(C11orf65):c.641-10905_641-10904del rs1555116381
NM_001330368.2(C11orf65):c.641-10907del rs878853530
NM_001330368.2(C11orf65):c.641-1090del rs786202814
NM_001330368.2(C11orf65):c.641-10933del rs1555116451
NM_001330368.2(C11orf65):c.641-10934dup rs1555116451
NM_001330368.2(C11orf65):c.641-10939dup rs587782554
NM_001330368.2(C11orf65):c.641-10970_641-10969del rs786202323
NM_001330368.2(C11orf65):c.641-10971dup rs786202323
NM_001330368.2(C11orf65):c.641-10978_641-10966del rs786202264
NM_001330368.2(C11orf65):c.641-1110dup rs1131691254
NM_001330368.2(C11orf65):c.641-1117delinsAGG rs587779851
NM_001330368.2(C11orf65):c.641-1119_641-1117delinsGAGG rs1555110295
NM_001330368.2(C11orf65):c.641-1196_641-1195del rs1060501657
NM_001330368.2(C11orf65):c.641-1220_641-1216del rs587781727
NM_001330368.2(C11orf65):c.641-12254_641-12239dup rs1555117084
NM_001330368.2(C11orf65):c.641-12273_641-12272del rs1060501707
NM_001330368.2(C11orf65):c.641-12300dup rs1591107480
NM_001330368.2(C11orf65):c.641-12332dup rs1565511585
NM_001330368.2(C11orf65):c.641-16320del rs876658603
NM_001330368.2(C11orf65):c.641-16321_641-16314del rs864622326
NM_001330368.2(C11orf65):c.641-16333del rs878853533
NM_001330368.2(C11orf65):c.641-16339dup rs587781872
NM_001330368.2(C11orf65):c.641-16348_641-16347del rs1565518539
NM_001330368.2(C11orf65):c.641-16391del rs876658394
NM_001330368.2(C11orf65):c.641-16395_641-16394del rs1060501543
NM_001330368.2(C11orf65):c.641-16414dup rs1555119247
NM_001330368.2(C11orf65):c.641-16420_641-16417dup rs863224461
NM_001330368.2(C11orf65):c.641-16420del rs1064793042
NM_001330368.2(C11orf65):c.641-16993delinsTG rs1565520117
NM_001330368.2(C11orf65):c.641-17022del rs1565520291
NM_001330368.2(C11orf65):c.641-17046dup rs1555119834
NM_001330368.2(C11orf65):c.641-17088del rs1555119940
NM_001330368.2(C11orf65):c.641-17101_641-17098del rs1064793043
NM_001330368.2(C11orf65):c.641-18595dup rs587781299
NM_001330368.2(C11orf65):c.641-18597_641-18594del rs786203421
NM_001330368.2(C11orf65):c.641-18608_641-18607del rs864622416
NM_001330368.2(C11orf65):c.641-18624dup rs1555121020
NM_001330368.2(C11orf65):c.641-18644_641-18641del rs1555121066
NM_001330368.2(C11orf65):c.641-18663_641-18608dup rs1555120985
NM_001330368.2(C11orf65):c.641-19951del rs878853538
NM_001330368.2(C11orf65):c.641-20046del rs1555122092
NM_001330368.2(C11orf65):c.641-20099_641-20096del rs1591151678
NM_001330368.2(C11orf65):c.641-20113_641-20111dup rs796051857
NM_001330368.2(C11orf65):c.641-20122_641-20121del rs1131691157
NM_001330368.2(C11orf65):c.641-20128T>C rs121434221
NM_001330368.2(C11orf65):c.641-20133del rs1565527283
NM_001330368.2(C11orf65):c.641-20144_641-20139del rs796051856
NM_001330368.2(C11orf65):c.641-20160_641-20157del rs886039628
NM_001330368.2(C11orf65):c.641-21301_641-21300del rs786203734
NM_001330368.2(C11orf65):c.641-21304dup rs1591161290
NM_001330368.2(C11orf65):c.641-21345dup rs1591161769
NM_001330368.2(C11orf65):c.641-22376CT[2] rs587781905
NM_001330368.2(C11orf65):c.641-22456_641-22455dup rs1555124089
NM_001330368.2(C11orf65):c.641-22465del rs1565532554
NM_001330368.2(C11orf65):c.641-22809del rs1591171040
NM_001330368.2(C11orf65):c.641-22822_641-22814del rs587776547
NM_001330368.2(C11orf65):c.641-22843delinsTCAC rs1555124503
NM_001330368.2(C11orf65):c.641-22847_641-22846del rs1565533778
NM_001330368.2(C11orf65):c.641-22879_641-22878del rs1064793359
NM_001330368.2(C11orf65):c.641-22881_641-22880del rs759965045
NM_001330368.2(C11orf65):c.641-22943del rs1057517025
NM_001330368.2(C11orf65):c.641-23694del rs1591178022
NM_001330368.2(C11orf65):c.641-23760del rs1555125349
NM_001330368.2(C11orf65):c.641-23777A>C rs1196903858
NM_001330368.2(C11orf65):c.641-23778C>G rs267606669
NM_001330368.2(C11orf65):c.641-24854A>G rs121434218
NM_001330368.2(C11orf65):c.641-24865del rs1591184471
NM_001330368.2(C11orf65):c.641-24878_641-24875del rs587776550
NM_001330368.2(C11orf65):c.641-25934_641-25933del rs1565540673
NM_001330368.2(C11orf65):c.641-26826CA[3] rs1555128432
NM_001330368.2(C11orf65):c.641-26829_641-26828dup rs587782525
NM_001330368.2(C11orf65):c.641-26871dup rs1565543844
NM_001330368.2(C11orf65):c.641-26874_641-26871del rs786202120
NM_001330368.2(C11orf65):c.641-26890_641-26886del rs730881294
NM_001330368.2(C11orf65):c.641-3380dup rs1555111808
NM_001330368.2(C11orf65):c.641-3392dup rs1591758604
NM_001330368.2(C11orf65):c.641-34163_641-34160del rs775899653
NM_001330368.2(C11orf65):c.641-34165AG[2] rs775899653
NM_001330368.2(C11orf65):c.641-34170del rs886039630
NM_001330368.2(C11orf65):c.641-34196_641-34184del rs786202318
NM_001330368.2(C11orf65):c.641-34204_641-34203delinsT rs1060501630
NM_001330368.2(C11orf65):c.641-34211_641-34210del rs1555135633
NM_001330368.2(C11orf65):c.641-34249delinsAA rs786202418
NM_001330368.2(C11orf65):c.641-34255_641-34252del rs1064793046
NM_001330368.2(C11orf65):c.641-34277del rs587781837
NM_001330368.2(C11orf65):c.641-34287del rs1591249359
NM_001330368.2(C11orf65):c.641-36693del rs752526400
NM_001330368.2(C11orf65):c.641-36736del rs1565563579
NM_001330368.2(C11orf65):c.641-36767dup rs876659010
NM_001330368.2(C11orf65):c.641-36819_641-36818delinsTT rs587781353
NM_001330368.2(C11orf65):c.641-36828_641-36826del rs786203976
NM_001330368.2(C11orf65):c.641-38239_641-38238del rs1232259438
NM_001330368.2(C11orf65):c.641-38247dup rs876660411
NM_001330368.2(C11orf65):c.641-38250_641-38248delinsTTTT rs1565567205
NM_001330368.2(C11orf65):c.641-38278dup rs753961188
NM_001330368.2(C11orf65):c.641-6752dup rs1555113505
NM_001330368.2(C11orf65):c.641-6791_641-6789delinsACTTCTGTAGATTTCTAAGAGAAGTATAA rs1565498886
NM_001330368.2(C11orf65):c.641-6794dup rs797045030
NM_001330368.2(C11orf65):c.641-6796_641-6793del rs1591776808
NM_001330368.2(C11orf65):c.641-6803del rs1064794166
NM_001330368.2(C11orf65):c.641-6977del rs1555113762
NM_001330368.2(C11orf65):c.641-8308G>A rs1555114563
NM_001330368.2(C11orf65):c.641-8330del rs786203008
NM_001330368.2(C11orf65):c.641-8342_641-8341del rs878853529
NM_001330368.2(C11orf65):c.641-8373delinsAA rs1555114702
NM_001330368.2(C11orf65):c.641-8375del rs1565503137
NM_001330368.2(C11orf65):c.641-8383del rs1565503198
NM_001351834.2(ATM):c.5763-1050A>G rs774925473
c.8201_8212del11ins6

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