ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
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.8147T>C (p.Val2716Ala) rs587782652 0.00004
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.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 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.8584+2T>C rs730881326 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.8998C>T (p.Gln3000Ter) rs587781698 0.00001
NM_000051.4(ATM):c.5763-2A>T rs876659489
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter) rs201963507
NM_000051.4(ATM):c.5896dup (p.Ser1966fs) rs1555110514
NM_000051.4(ATM):c.5910del (p.Glu1971fs) rs587782198
NM_000051.4(ATM):c.5919-2A>C rs746623393
NM_000051.4(ATM):c.5919-2A>G rs746623393
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter) rs375783941
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6348-1G>A rs1057517302
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs) rs1057516905
NM_000051.4(ATM):c.6572+1G>A rs587779856
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter) rs1555119011
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer) rs747057367
NM_000051.4(ATM):c.6850del (p.Val2284fs) rs876659569
NM_000051.4(ATM):c.6976-2A>C rs587782403
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs) rs786203421
NM_000051.4(ATM):c.7089+2T>G rs1057516235
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs) rs1555122030
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter) rs1018140779
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp) rs876659365
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7767del (p.Lys2589fs) rs1057517025
NM_000051.4(ATM):c.7788G>A (p.Glu2596=) rs587780639
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7796del (p.Thr2599fs) rs1555125223
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.7880del (p.Tyr2627fs) rs1057516599
NM_000051.4(ATM):c.7927+5del rs786204437
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter) rs587781994
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.7998dup (p.Met2667fs) rs587779869
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter) rs758588019
NM_000051.4(ATM):c.8106dup (p.Asp2703fs) rs1555127231
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter) rs587781967
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+1G>A rs766533795
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8585-2A>G rs1060501700
NM_000051.4(ATM):c.8586del (p.Gly2863fs) rs1555139467
NM_000051.4(ATM):c.8671+2T>C rs1057516229
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter) rs1555142845
NM_000051.4(ATM):c.8802del (p.Met2935fs) rs876660567
NM_000051.4(ATM):c.8851-1G>T rs1057516537
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.8988-2A>C rs786202087
NM_000051.4(ATM):c.9064dup (p.Glu3022fs) rs1057516282
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter) rs1555152009
NM_001330368.2(C11orf65):c.641-6751dup rs1555113505

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