ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 128
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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 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
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.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.5798G>A (p.Trp1933Ter) rs876658740 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 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.7570G>C (p.Ala2524Pro) rs769142993 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496 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.8786+1G>T rs17174393 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.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.3(ATM):c.8269del rs1555135341
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter) rs876658831
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5959dup (p.Ser1987fs) rs1555111808
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5980_5986delinsTAAGAAA (p.Lys1994_Glu1996delinsTer) rs1555111868
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs) rs1591776808
NM_000051.4(ATM):c.6059del (p.Gly2020fs) rs1064794166
NM_000051.4(ATM):c.6096-2A>G rs1057520704
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6133del (p.Ala2045fs) rs1555113762
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer) rs1565499757
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter) rs587782114
NM_000051.4(ATM):c.6327G>A (p.Trp2109Ter) rs867760244
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter) rs2085078278
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.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6435_6436del (p.Leu2147fs) rs786202323
NM_000051.4(ATM):c.6503C>A (p.Ser2168Ter) rs200431631
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6754del (p.Thr2252fs) rs1064793042
NM_000051.4(ATM):c.6807+1G>C rs2136319435
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter) rs1555119797
NM_000051.4(ATM):c.6900G>A (p.Trp2300Ter) rs1591133875
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.6920_6923del (p.Leu2307fs) rs1064793043
NM_000051.4(ATM):c.6976-10_6989del rs587779859
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.7010_7065dup (p.Ile2356delinsValTer) rs1555120985
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs) rs886039628
NM_000051.4(ATM):c.7311C>G (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
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.7542T>G (p.Tyr2514Ter) rs777925486
NM_000051.4(ATM):c.7630-2A>G rs587779866
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.7701_7702del (p.Asn2567fs) rs1064793359
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7929delA (p.Gly2644fs) rs1064795550
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.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter) rs1060501695
NM_000051.4(ATM):c.8146G>T (p.Val2716Phe) rs730881385
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter) rs758654836
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs) rs879254036
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs) rs786202318
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
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.8419G>T (p.Glu2807Ter) rs1555137929
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs) rs767533596
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg) rs780905851
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle) rs587781353
NM_000051.4(ATM):c.8585-13_8598del rs1555139443
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter) rs1057520672
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8672-1G>C rs876660088
NM_000051.4(ATM):c.8695dup (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8786+1G>C rs17174393
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
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.8880G>A (p.Trp2960Ter) rs1060501650
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9039dup (p.Gln3014fs) rs879253972
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer) rs1555151827
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9112del (p.Gln3038fs) rs587779878

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