ClinVar Miner

List of variants in gene combination ATM, C11orf65 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 101
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.*2607T>C rs879796523 0.00055
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.6795C>T (p.Phe2265=) rs3218699 0.00038
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00017
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00014
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_000051.4(ATM):c.7521C>T (p.Asp2507=) rs751234924 0.00006
NM_000051.4(ATM):c.8495G>A (p.Arg2832His) rs529296539 0.00006
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu) rs139379666 0.00006
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 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.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7999A>G (p.Met2667Val) rs34099398 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=) rs1057519167 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter) rs1060501536 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val) rs587781521 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.7266G>A (p.Glu2422=) rs876659834 0.00001
NM_000051.4(ATM):c.7359T>G (p.Arg2453=) rs786201541 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.7522G>A (p.Gly2508Arg) rs754395517 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly) rs766351395 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met) rs730881329 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr) rs778670498 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile) rs876660944
NM_000051.4(ATM):c.5931del (p.Phe1977fs) rs1565493368
NM_000051.4(ATM):c.5986G>T (p.Glu1996Ter) rs2084252910
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly) rs587781302
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr) rs1060501643
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.6295C>G (p.His2099Asp) rs2084787307
NM_000051.4(ATM):c.6298del (p.Tyr2100fs) rs2136167939
NM_000051.4(ATM):c.6355G>C (p.Val2119Leu)
NM_000051.4(ATM):c.6406A>G (p.Arg2136Gly)
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe) rs1555119051
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val) rs1028293945
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter) rs863224578
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6992A>C (p.Lys2331Thr)
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.7212C>T (p.Tyr2404=) rs1591151390
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7272A>G (p.Val2424=) rs2085998058
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly) rs730881383
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.7591dup (p.Met2531fs)
NM_000051.4(ATM):c.7622T>G (p.Leu2541Arg) rs876658933
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val) rs766351395
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.8011-5A>G
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp) rs1060501680
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.8292T>C (p.Ser2764=) rs781690523
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8475A>G (p.Gln2825=) rs769656947
NM_000051.4(ATM):c.8560C>G (p.Arg2854Gly) rs201958469
NM_000051.4(ATM):c.8631G>A (p.Leu2877=) rs1064794840
NM_000051.4(ATM):c.8695del (p.Ile2899fs) rs1555142816
NM_000051.4(ATM):c.8766dup (p.Val2923fs) rs876660813
NM_000051.4(ATM):c.8781_8786+2del rs1591307438
NM_000051.4(ATM):c.8786+2dup rs1565579654
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu) rs587781894
NM_000051.4(ATM):c.9063A>G (p.Glu3021=) rs1555151874
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_001330368.2(C11orf65):c.641-34150del rs1555135341

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