ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as likely pathogenic for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 144
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HGVS dbSNP
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.(?_108198362)_(108202294_?)del
NC_000011.9:g.(?_108198372)_(108202284_?)del
NC_000011.9:g.(?_108205686)_(108225611_?)del
NC_000011.9:g.(?_108205690)_(108225607_?)del
NM_000051.3(ATM):c.2467-?_8850+?dup6384
NM_000051.3(ATM):c.5129_5763-1060del
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.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.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.6199-2del 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.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.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.6976-10_6989del 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.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.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.7875_7876delinsGC (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+5del 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+1del 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.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+2del 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.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.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.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_001330368.2(C11orf65):c.641-6752dup rs1555113505

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