ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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Gene type:
ClinVar version:
Total variants: 149
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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.6095G>A (p.Arg2032Lys) rs139770721 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.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.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter) rs781215442 0.00001
NM_000051.4(ATM):c.8213T>G (p.Leu2738Ter) rs773889320 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.8505C>A (p.Cys2835Ter) rs587781597 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.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.8988-1G>C rs730881386 0.00001
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs) rs1591745745
NM_000051.4(ATM):c.5853del (p.Phe1952fs) rs1555110418
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs) rs1555110517
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter) rs786203404
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.5980A>T (p.Lys1994Ter) rs1565493693
NM_000051.4(ATM):c.5982del (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5982dup (p.Glu1995fs) rs1555111855
NM_000051.4(ATM):c.5991del (p.Gly1998fs) rs1591758884
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter) rs201136510
NM_000051.4(ATM):c.6007_6029dup
NM_000051.4(ATM):c.6007delG (p.Asp2003fs) rs1555113505
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6044_6046delinsTTATACTTCTCTTAGAAATCTACAGAAGT (p.Pro2015fs) rs1565498886
NM_000051.4(ATM):c.6049dup (p.Ser2017fs) rs797045030
NM_000051.4(ATM):c.6080del (p.Leu2027fs) rs1060501548
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter) rs876659454
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter) rs1555113845
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter) rs2136132184
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6237_6238del (p.Tyr2080fs) rs1555114623
NM_000051.4(ATM):c.6242del (p.Tyr2080_Leu2081insTer) rs2084779727
NM_000051.4(ATM):c.6258T>G (p.Tyr2086Ter) rs1565502999
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter) rs1555114737
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6322C>T (p.Gln2108Ter)
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6399del (p.Gln2133fs) rs1555116451
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs) rs2085083193
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.6444dup (p.Tyr2149fs) rs1555116533
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter) rs1555119041
NM_000051.4(ATM):c.6743dup (p.Asp2249fs) rs2085573796
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter) rs1565520246
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6867_6868dup (p.Glu2290fs) rs2085653871
NM_000051.4(ATM):c.6908dup (p.Glu2304fs) rs773570504
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
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.7022delinsTT (p.Cys2341fs)
NM_000051.4(ATM):c.7035_7036del (p.Leu2345fs)
NM_000051.4(ATM):c.7047C>A (p.Cys2349Ter)
NM_000051.4(ATM):c.7066_7081del (p.Val2355_Ile2356insTer) rs886039502
NM_000051.4(ATM):c.7088del (p.Lys2363fs) rs876658512
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7216_7217insTA (p.Lys2406fs)
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter) rs1555122149
NM_000051.4(ATM):c.7282_7283insAA (p.Arg2428fs) rs2136422828
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7519_7520del rs587781905
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer) rs1555123981
NM_000051.4(ATM):c.7564C>T (p.Gln2522Ter)
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs) rs1060501547
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7729del (p.Glu2576_Val2577insTer) rs2086303574
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter) rs2086308918
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter) rs1591172641
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.4(ATM):c.7829_7830del (p.Arg2610fs) rs2086410142
NM_000051.4(ATM):c.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8000dup (p.Met2667fs)
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs) rs587780640
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter) rs1555127157
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8101dup (p.Ile2701fs) rs2086682689
NM_000051.4(ATM):c.8127del (p.Lys2710fs) rs1591192266
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs) rs1555128432
NM_000051.4(ATM):c.8240dup (p.Arg2748fs) rs1591199097
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter) rs751574257
NM_000051.4(ATM):c.8288del (p.Arg2763fs) rs886039630
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.8319_8323dup (p.Pro2775fs) rs1555135596
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs) rs1060501630
NM_000051.4(ATM):c.8325del (p.Ile2776fs) rs886039623
NM_000051.4(ATM):c.8368del (p.Arg2790fs) rs2136948975
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.8398C>T (p.Gln2800Ter) rs2136952289
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.8432dup (p.Ser2812fs) rs587782558
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter) rs56025670
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter) rs2088551822
NM_000051.4(ATM):c.8652dup (p.Leu2885fs) rs2088559453
NM_000051.4(ATM):c.8655dup (p.Val2886fs) rs753961188
NM_000051.4(ATM):c.8672del rs779170307
NM_000051.4(ATM):c.8676dup (p.Ala2893fs) rs2089492486
NM_000051.4(ATM):c.8682dup (p.Glu2895Ter) rs1565579084
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.8879G>A (p.Trp2960Ter) rs1131691149
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter) rs1565607653
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs) rs2091211325
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter) rs147695170
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter) rs876660382
NM_000051.4(ATM):c.9021dup (p.Arg3008fs) rs876660235
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs) rs587782847

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