ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic for Ataxia-telangiectasia syndrome

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Gene type:
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Total variants: 180
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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.(?_108267165)_(108365514_?)del
NC_000011.10:g.(?_108297287)_(108335961_?)del
NC_000011.10:g.(?_108325310)_(108369099_?)del
NC_000011.10:g.(?_108335912)_(108340340_?)del
NC_000011.10:g.(?_108343222)_(108369099_?)del
NC_000011.10:g.(?_108365072)_(108365518_?)del
NC_000011.10:g.(?_108365076)_(108365514_?)del
NC_000011.10:g.(?_108365082)_(108365508_?)del
NG_009830.1:g.(41245_49339)_(137044_147250)dup
NG_009830.1:g.118063_118073delTGTGTAATACAins6
NM_000051.3(ATM):c.3403-?_*(1_?)del
NM_000051.3(ATM):c.5762_5763insNG_009830.1:g.91138_91274 rs774925473
NM_000051.3(ATM):c.5798G>A (p.Trp1933Ter) rs876658740
NM_000051.3(ATM):c.5870_5871delAT (p.Tyr1957Cysfs) rs1060501657
NM_000051.3(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.3(ATM):c.5908C>T (p.Gln1970Ter) rs587781722
NM_000051.3(ATM):c.5910delA (p.Glu1971Argfs) rs587782198
NM_000051.3(ATM):c.5931delT (p.Phe1977Leufs)
NM_000051.3(ATM):c.5932G>T (p.Glu1978Ter) rs587779852
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_5983delTAAAG (p.Ser1993Argfs) rs876660134
NM_000051.3(ATM):c.5982delA (p.Glu1995Lysfs) rs1555111855
NM_000051.3(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.3(ATM):c.6049dupA (p.Ser2017Lysfs) rs797045030
NM_000051.3(ATM):c.6080delT (p.Leu2027Tyrfs) rs1060501548
NM_000051.3(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.3(ATM):c.6115G>T (p.Glu2039Ter) rs864622251
NM_000051.3(ATM):c.6133delG (p.Ala2045Profs) rs1555113762
NM_000051.3(ATM):c.6146_6147delAT (p.Tyr2049Terfs)
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.6198+1G>A rs778031266
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.6222C>A (p.Cys2074Ter)
NM_000051.3(ATM):c.6228delT (p.Leu2077Phefs) rs786203008
NM_000051.3(ATM):c.6239_6240delAT (p.Tyr2080Phefs) rs878853529
NM_000051.3(ATM):c.6272G>A (p.Trp2091Ter) rs1060501712
NM_000051.3(ATM):c.6280delG (p.Glu2094Asnfs)
NM_000051.3(ATM):c.6311G>A (p.Trp2104Ter)
NM_000051.3(ATM):c.6347+1G>A rs1057517120
NM_000051.3(ATM):c.6373delC (p.His2125Metfs) rs878853530
NM_000051.3(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.3(ATM):c.6399delA (p.Gln2133Hisfs) rs1555116451
NM_000051.3(ATM):c.6404_6405insTT (p.Arg2136Terfs) rs587782554
NM_000051.3(ATM):c.6404dup (p.Arg2136Lysfs) rs587782554
NM_000051.3(ATM):c.6415_6416delGA (p.Glu2139Ilefs) rs863225466
NM_000051.3(ATM):c.6444dup (p.Tyr2149Ilefs) rs1555116533
NM_000051.3(ATM):c.6452+1G>T
NM_000051.3(ATM):c.6463_6478dup16 (p.Lys2160Serfs) rs1555117084
NM_000051.3(ATM):c.6498_6499delGT (p.Tyr2167Phefs) rs1060501707
NM_000051.3(ATM):c.6555dup (p.Gly2186Trpfs)
NM_000051.3(ATM):c.6585_6586delTA (p.His2195Glnfs) rs1555119004
NM_000051.3(ATM):c.6650_6657delTTAGTTTT (p.Phe2217Serfs) rs864622326
NM_000051.3(ATM):c.6657delT (p.Gln2220Argfs) rs876658603
NM_000051.3(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536
NM_000051.3(ATM):c.6667delA (p.Ile2223Serfs) rs878853533
NM_000051.3(ATM):c.6679C>T (p.Arg2227Cys) rs564652222
NM_000051.3(ATM):c.6683_6684delCA (p.Thr2228Serfs)
NM_000051.3(ATM):c.6729_6730delAA (p.Glu2245Metfs) rs1060501543
NM_000051.3(ATM):c.6750_6751insCTCA (p.Lys2253Hisfs) rs863224461
NM_000051.3(ATM):c.6808-242_7516-275del
NM_000051.3(ATM):c.6814delGinsCA (p.Glu2272Glnfs)
NM_000051.3(ATM):c.6839delA (p.Gln2280Argfs) rs1407907917
NM_000051.3(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.3(ATM):c.6843delC (p.Tyr2281Terfs)
NM_000051.3(ATM):c.6850delG (p.Val2284Leufs) rs876659569
NM_000051.3(ATM):c.6867dup (p.Glu2290Terfs) rs1555119834
NM_000051.3(ATM):c.6908dup (p.Glu2304Glyfs) rs773570504
NM_000051.3(ATM):c.6910delG (p.Glu2304Serfs) rs1555119940
NM_000051.3(ATM):c.6916_6917delAG (p.Leu2307Cysfs) rs878853535
NM_000051.3(ATM):c.6997dupA (p.Thr2333Asnfs) rs587781299
NM_000051.3(ATM):c.7000_7003delTACA (p.Tyr2334Glnfs) rs786203421
NM_000051.3(ATM):c.7010_7011delGT (p.Cys2337Serfs) rs864622416
NM_000051.3(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162
NM_000051.3(ATM):c.7080T>G (p.Tyr2360Ter) rs1555121147
NM_000051.3(ATM):c.7088delA (p.Lys2363Argfs) rs876658512
NM_000051.3(ATM):c.7091delC (p.Ala2364Glufs) rs878853538
NM_000051.3(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.3(ATM):c.7186delA (p.Thr2396Leufs) rs1555122092
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.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7274delG (p.Gly2425Valfs)
NM_000051.3(ATM):c.7279_7284del (p.Leu2427_Arg2428del) rs796051856
NM_000051.3(ATM):c.7293_7294delAA (p.Lys2431Asnfs) 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.7456C>T (p.Arg2486Ter) rs587779865
NM_000051.3(ATM):c.7517_7520delGAGA (p.Arg2506Thrfs) rs587781905
NM_000051.3(ATM):c.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.3(ATM):c.7542_7543delTA (p.Tyr2514Terfs) rs1555123981
NM_000051.3(ATM):c.7563C>G (p.Tyr2521Ter) rs772228129
NM_000051.3(ATM):c.7608delA (p.His2538Metfs)
NM_000051.3(ATM):c.7629_7629+4delTGTAA rs876660041
NM_000051.3(ATM):c.7630-2A>C rs587779866
NM_000051.3(ATM):c.7630-2A>G rs587779866
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.7655_7656insGA (p.His2552Glnfs)
NM_000051.3(ATM):c.7665delCinsGTGA (p.His2555_Asp2889delinsGlnTer) rs1555124503
NM_000051.3(ATM):c.7669_7670delTT (p.Leu2557Valfs)
NM_000051.3(ATM):c.7671_7674delGTTT (p.Phe2558Leufs) rs1555124506
NM_000051.3(ATM):c.7699_7702delAACA (p.Asn2567Glufs) rs1060501547
NM_000051.3(ATM):c.7705_7706delGA (p.Asp2569Terfs) rs759965045
NM_000051.3(ATM):c.7767delA (p.Lys2589Asnfs) rs1057517025
NM_000051.3(ATM):c.7768C>T (p.Gln2590Ter)
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.7789-3T>G rs864622185
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.7838_7839dupGA (p.Pro2614Aspfs) rs730881293
NM_000051.3(ATM):c.7875_7876delTGinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.3(ATM):c.7886_7890delTATTA (p.Ile2629Serfs) rs1450394308
NM_000051.3(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.3(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.3(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.3(ATM):c.7988_7991del (p.Val2663Alafs) rs587776550
NM_000051.3(ATM):c.8036_8051del16 (p.Asn2679Serfs) rs587780640
NM_000051.3(ATM):c.8048_8049delTA (p.Ile2683Thrfs)
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
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.8218C>T (p.Gln2740Ter) rs866402530
NM_000051.3(ATM):c.8224_8225delAA (p.Asn2742Hisfs) rs1162534390
NM_000051.3(ATM):c.8249dup (p.Leu2750Phefs)
NM_000051.3(ATM):c.8264_8268delATAAG (p.Tyr2755Cysfs) rs730881294
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.3(ATM):c.8292_8293delTG (p.Ser2764Argfs) rs879254036
NM_000051.3(ATM):c.8305_8317delTGGTGCACAGGAA (p.Trp2769Leufs) rs786202318
NM_000051.3(ATM):c.8307G>A (p.Trp2769Ter) rs778269655
NM_000051.3(ATM):c.8319_8323dupTGTCC (p.Pro2775Leufs) rs1555135596
NM_000051.3(ATM):c.8321_8322delTCinsA (p.Val2774Aspfs) rs1060501630
NM_000051.3(ATM):c.8367delAinsTT (p.Lys2789Asnfs) rs786202418
NM_000051.3(ATM):c.8371_8374delTACA (p.Tyr2791Glyfs) rs1064793046
NM_000051.3(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.3(ATM):c.8395_8404delTTTCAGTGCC (p.Phe2799Lysfs) rs786202800
NM_000051.3(ATM):c.8403C>A (p.Cys2801Ter) rs1555135852
NM_000051.3(ATM):c.8418+5_8418+8delGTGA rs730881295
NM_000051.3(ATM):c.8432delA (p.Lys2811Serfs) rs587782558
NM_000051.3(ATM):c.8435_8436delCT (p.Ser2812Phefs) rs767533596
NM_000051.3(ATM):c.8440delG (p.Glu2814Lysfs)
NM_000051.3(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.3(ATM):c.8484del (p.Gln2828Hisfs)
NM_000051.3(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
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.8578_8580delTCT (p.Ser2860del) rs786203976
NM_000051.3(ATM):c.8625_8627delTATinsAAAA (p.Asn2875Lysfs)
NM_000051.3(ATM):c.8655dupT (p.Val2886Cysfs) rs753961188
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_8824delGAGAAACTCTC (p.Met2938Ilefs) rs758814126
NM_000051.3(ATM):c.8833_8834delCT (p.Leu2945Valfs) rs786203030
NM_000051.3(ATM):c.8835_8836delGT (p.Leu2946Asnfs) rs786202547
NM_000051.3(ATM):c.8873_8874delTT (p.Phe2958Terfs) rs864622669
NM_000051.3(ATM):c.8876_8879delACTG (p.Asp2959Glyfs) 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)
NM_000051.3(ATM):c.8942delA (p.His2981Profs) rs786203489
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>C rs730881386
NM_000051.3(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.3(ATM):c.9021dupA (p.Arg3008Thrfs) rs876660235
NM_000051.3(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.3(ATM):c.9037_9040delCTAC (p.Leu3013Lysfs)
NM_000051.3(ATM):c.9073delG (p.Val3025Cysfs) rs1555151928
NM_000051.3(ATM):c.9139C>T (p.Arg3047Ter) rs121434219

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