ClinVar Miner

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

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 182
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6807G>A (p.Gln2269=) rs587780638 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter) rs1131691162 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7629+2T>C rs786203059 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8584+2T>C rs730881326 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.9023G>A (p.Arg3008His) rs587781894 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)
NM_000051.4(ATM):c.5839del (p.Ser1947fs) rs2136015541
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs) rs587781727
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter) rs1555111775
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6082del (p.Gln2028fs) rs1565499093
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys) rs864622251
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
NM_000051.4(ATM):c.6178_6182del (p.Arg2060fs)
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6199-1G>T rs1591788932
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6215del (p.Gly2072fs) rs2084775383
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6273del (p.Trp2091fs) rs1565503137
NM_000051.4(ATM):c.6280del (p.Glu2094fs) rs1565503198
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
NM_000051.4(ATM):c.6372C>G (p.Tyr2124Ter)
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter) rs876658163
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) rs1339238483
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6527del (p.Leu2176fs) rs2136241341
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter) rs2136306738
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
NM_000051.4(ATM):c.6730dup (p.Arg2244fs) rs1060501543
NM_000051.4(ATM):c.6829del (p.Gln2277fs) rs2136332132
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter) rs1555119834
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7031G>A (p.Trp2344Ter)
NM_000051.4(ATM):c.7089+1_7089+38del rs2085827807
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter) rs1591150887
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.4(ATM):c.7307+1G>A rs2086003529
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7424T>G (p.Leu2475Ter) rs1224883896
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer) rs1555124503
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs) rs1565533778
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7694dup (p.Asn2565fs) rs1591171790
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7751_7754del (p.Thr2584fs) rs2086308364
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del) rs876660743
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter) rs1555127102
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs) rs1591191412
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8101dup (p.Ile2701fs) rs2086682689
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs) rs2136663735
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8152-1G>A rs1398616877
NM_000051.4(ATM):c.8152-1G>T rs1398616877
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
NM_000051.4(ATM):c.8182dup (p.Met2728fs) rs2136693800
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs) rs775899653
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs) rs1064793046
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8397del (p.Gln2800fs) rs587781837
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter) rs1555137973
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8440del (p.Glu2814fs) rs752526400
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs) rs2137028850
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs) rs2088299549
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000051.4(ATM):c.8585-1G>C
NM_000051.4(ATM):c.8585-2A>C rs1060501700
NM_000051.4(ATM):c.8652dup (p.Leu2885fs) rs2088559453
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8671+2_8671+3insTA rs2137087134
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
NM_000051.4(ATM):c.8720del (p.Pro2907fs)
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8787-1G>C rs1591313869
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter) rs1555143494
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs) rs786202547
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer) rs864622669
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter) rs2091208125
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs) rs2137881586
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter) rs147695170
NM_000051.4(ATM):c.8968G>T (p.Glu2990Ter)
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_001330368.2(C11orf65):c.640+16147_640+22966del

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