ClinVar Miner

List of variants in gene ATM, C11orf65 studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 561
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8671+104T>C rs227075 0.62224
NM_000051.4(ATM):c.8850+60A>G rs664143 0.61921
NM_000051.4(ATM):c.6807+238G>C rs609429 0.53261
NM_000051.4(ATM):c.6198+116T>C rs4988084 0.07928
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.6095+15T>C rs3212321 0.01395
NM_000051.4(ATM):c.6572+12G>T rs3218677 0.01112
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro) rs4988111 0.00660
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.*44A>G rs55900855 0.00643
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.*29C>G rs3218711 0.00603
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00517
NM_000051.4(ATM):c.6348-54T>C rs116924981 0.00493
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr) rs56815840 0.00424
NM_000051.4(ATM):c.5918+72A>G rs3218694 0.00314
NM_000051.4(ATM):c.6007-44G>A rs185700860 0.00300
NM_000051.4(ATM):c.7630-17T>C rs116047570 0.00268
NM_000051.4(ATM):c.8011-38A>G rs200440370 0.00232
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
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.7928-10T>C rs188404773 0.00079
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00056
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000051.4(ATM):c.8418+13C>T rs372552946 0.00041
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.6808-22C>A rs3218700 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000051.4(ATM):c.7044G>A (p.Thr2348=) rs140104789 0.00030
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp) rs149827260 0.00030
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00029
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met) rs146243469 0.00022
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.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
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.7552C>T (p.Pro2518Ser) rs374876799 0.00017
NM_000051.4(ATM):c.7224G>A (p.Ser2408=) rs145747513 0.00016
NM_000051.4(ATM):c.8584+10T>C rs373321041 0.00016
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629 0.00016
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly) rs370567994 0.00015
NM_000051.4(ATM):c.8156G>A (p.Arg2719His) rs55982963 0.00015
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr) rs372838622 0.00014
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.8671+9T>G rs200190537 0.00013
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507 0.00011
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=) rs369940136 0.00011
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00011
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys) rs531980488 0.00011
NM_000051.4(ATM):c.8154C>T (p.Gly2718=) rs371021126 0.00011
NM_000051.4(ATM):c.6382T>C (p.Leu2128=) rs753646931 0.00010
NM_000051.4(ATM):c.7494T>C (p.Ser2498=) rs34393781 0.00010
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala) rs377648506 0.00010
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser) rs587778079 0.00009
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala) rs1232551114 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.6096-14A>G rs184029731 0.00006
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser) rs587780632 0.00006
NM_000051.4(ATM):c.6486C>T (p.Ser2162=) rs138166710 0.00006
NM_000051.4(ATM):c.7062G>A (p.Ala2354=) rs143489373 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.6160G>T (p.Ala2054Ser) rs587779853 0.00005
NM_000051.4(ATM):c.6573-16A>G rs764506673 0.00005
NM_000051.4(ATM):c.7983T>C (p.Asp2661=) rs143972422 0.00005
NM_000051.4(ATM):c.9031A>G (p.Met3011Val) rs372795527 0.00005
NM_000051.4(ATM):c.5868C>T (p.Leu1956=) rs540054724 0.00004
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln) rs3218670 0.00004
NM_000051.4(ATM):c.6114C>T (p.His2038=) rs774993357 0.00004
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro) rs376521407 0.00004
NM_000051.4(ATM):c.6333T>C (p.His2111=) rs55756349 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000051.4(ATM):c.7779G>A (p.Gln2593=) rs770321620 0.00004
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val) rs376824528 0.00004
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00004
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln) rs730881325 0.00004
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met) rs141534716 0.00004
NM_000051.4(ATM):c.8629T>C (p.Leu2877=) rs730881279 0.00004
NM_000051.4(ATM):c.8786+20G>C rs56283878 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu) rs778267979 0.00004
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser) rs587781865 0.00003
NM_000051.4(ATM):c.6219C>T (p.Leu2073=) rs752478345 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6453-15C>A rs763296454 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000051.4(ATM):c.6526T>C (p.Leu2176=) rs143715818 0.00003
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr) rs779611511 0.00003
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp) rs730881311 0.00003
NM_000051.4(ATM):c.6636C>T (p.Leu2212=) rs876659563 0.00003
NM_000051.4(ATM):c.6678A>G (p.Leu2226=) rs772173373 0.00003
NM_000051.4(ATM):c.6807+20A>G rs369001797 0.00003
NM_000051.4(ATM):c.6888A>T (p.Ala2296=) rs200735689 0.00003
NM_000051.4(ATM):c.7191A>G (p.Gln2397=) rs768906734 0.00003
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys) rs730881383 0.00003
NM_000051.4(ATM):c.7927+10T>C rs730881277 0.00003
NM_000051.4(ATM):c.8100A>G (p.Lys2700=) rs778601472 0.00003
NM_000051.4(ATM):c.8152-6C>T rs200389039 0.00003
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile) rs779145081 0.00003
NM_000051.4(ATM):c.8419-16_8419-13del rs774275044 0.00003
NM_000051.4(ATM):c.8964C>T (p.Asp2988=) rs969795398 0.00003
NM_000051.4(ATM):c.9006C>T (p.Phe3002=) rs540172506 0.00003
NM_000051.4(ATM):c.6042G>A (p.Glu2014=) rs138987778 0.00002
NM_000051.4(ATM):c.6153C>T (p.Leu2051=) rs876658452 0.00002
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val) rs758038580 0.00002
NM_000051.4(ATM):c.6219C>G (p.Leu2073=) rs752478345 0.00002
NM_000051.4(ATM):c.6396A>G (p.Leu2132=) rs370537345 0.00002
NM_000051.4(ATM):c.6774C>T (p.Leu2258=) rs1057520450 0.00002
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val) rs587779857 0.00002
NM_000051.4(ATM):c.6897C>T (p.Phe2299=) rs777164914 0.00002
NM_000051.4(ATM):c.7038A>T (p.Ala2346=) rs146167034 0.00002
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys) rs863224462 0.00002
NM_000051.4(ATM):c.7515+20A>G rs80124497 0.00002
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys) rs755009196 0.00002
NM_000051.4(ATM):c.7788+19C>T rs201990371 0.00002
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser) rs150355232 0.00002
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile) rs587779870 0.00002
NM_000051.4(ATM):c.8121C>T (p.Ser2707=) rs770138283 0.00002
NM_000051.4(ATM):c.8151+11C>T rs555381912 0.00002
NM_000051.4(ATM):c.8151+8T>C rs768069197 0.00002
NM_000051.4(ATM):c.8187A>C (p.Gln2729His) rs587781946 0.00002
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys) rs747764678 0.00002
NM_000051.4(ATM):c.8786+11T>C rs368627124 0.00002
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311 0.00001
NM_000051.4(ATM):c.5886A>G (p.Ala1962=) rs1057522876 0.00001
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu) rs1060501652 0.00001
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp) rs945198632 0.00001
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn) rs775921052 0.00001
NM_000051.4(ATM):c.6006+13G>C rs368207631 0.00001
NM_000051.4(ATM):c.6006+8T>C rs56019194 0.00001
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His) rs199586999 0.00001
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys) rs876658415 0.00001
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu) rs1486220915 0.00001
NM_000051.4(ATM):c.6095+8G>T rs547072690 0.00001
NM_000051.4(ATM):c.6097C>T (p.Leu2033=) rs769813736 0.00001
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val) rs755973863 0.00001
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro) rs587779854 0.00001
NM_000051.4(ATM):c.6250T>C (p.Leu2084=) rs772608345 0.00001
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe) rs730881380 0.00001
NM_000051.4(ATM):c.6332A>G (p.His2111Arg) rs876658300 0.00001
NM_000051.4(ATM):c.6342C>T (p.Ser2114=) rs754020535 0.00001
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly) rs876659773 0.00001
NM_000051.4(ATM):c.6452+13G>A rs760228732 0.00001
NM_000051.4(ATM):c.6453-17T>G rs1057522251 0.00001
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys) rs768155385 0.00001
NM_000051.4(ATM):c.6504G>A (p.Ser2168=) rs786203522 0.00001
NM_000051.4(ATM):c.6507C>G (p.Leu2169=) rs863224295 0.00001
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr) rs878853532 0.00001
NM_000051.4(ATM):c.6558G>A (p.Gly2186=) rs1555117263 0.00001
NM_000051.4(ATM):c.6572+4T>C rs587780636 0.00001
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg) rs749261367 0.00001
NM_000051.4(ATM):c.6670A>G (p.Met2224Val) rs545873723 0.00001
NM_000051.4(ATM):c.6681C>T (p.Arg2227=) rs775850434 0.00001
NM_000051.4(ATM):c.6700C>T (p.Leu2234=) rs760602228 0.00001
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met) rs876658607 0.00001
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn) rs1060501602 0.00001
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro) rs587781674 0.00001
NM_000051.4(ATM):c.6808-20A>G rs1240565463 0.00001
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu) rs756898113 0.00001
NM_000051.4(ATM):c.6846T>C (p.Asn2282=) rs541718119 0.00001
NM_000051.4(ATM):c.6925C>T (p.Leu2309=) rs763839047 0.00001
NM_000051.4(ATM):c.6966C>T (p.Ser2322=) rs864622593 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.6975+7T>A rs754834282 0.00001
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys) rs1305313302 0.00001
NM_000051.4(ATM):c.7035A>G (p.Leu2345=) rs1057523514 0.00001
NM_000051.4(ATM):c.7089+20C>T rs730881275 0.00001
NM_000051.4(ATM):c.7116T>C (p.Asp2372=) rs3218675 0.00001
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp) rs376159946 0.00001
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val) rs778888033 0.00001
NM_000051.4(ATM):c.7221A>G (p.Ser2407=) rs786201881 0.00001
NM_000051.4(ATM):c.7307+18A>C rs777909508 0.00001
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala) rs776266049 0.00001
NM_000051.4(ATM):c.7317A>G (p.Val2439=) rs878853542 0.00001
NM_000051.4(ATM):c.7363C>T (p.Leu2455=) rs147665149 0.00001
NM_000051.4(ATM):c.7382G>A (p.Arg2461His) rs768461085 0.00001
NM_000051.4(ATM):c.7383C>T (p.Arg2461=) rs1429991894 0.00001
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788 0.00001
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe) rs753262623 0.00001
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser) rs531617441 0.00001
NM_000051.4(ATM):c.7539A>G (p.Thr2513=) rs752294923 0.00001
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=) rs777925486 0.00001
NM_000051.4(ATM):c.7566A>G (p.Gln2522=) rs775621333 0.00001
NM_000051.4(ATM):c.7629+12T>C rs373731708 0.00001
NM_000051.4(ATM):c.7629T>C (p.Asn2543=) rs767123895 0.00001
NM_000051.4(ATM):c.7630-12C>G rs911541230 0.00001
NM_000051.4(ATM):c.7630-15G>T rs773603597 0.00001
NM_000051.4(ATM):c.7630-4A>G rs1057523067 0.00001
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr) rs940285361 0.00001
NM_000051.4(ATM):c.7788+7G>A rs749610251 0.00001
NM_000051.4(ATM):c.7927+13T>A rs748853277 0.00001
NM_000051.4(ATM):c.7928-6A>T rs373509918 0.00001
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala) rs745775382 0.00001
NM_000051.4(ATM):c.8019C>T (p.His2673=) rs1181283176 0.00001
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg) rs766730487 0.00001
NM_000051.4(ATM):c.8109T>C (p.Asp2703=) rs201689025 0.00001
NM_000051.4(ATM):c.8112T>C (p.Cys2704=) rs786201543 0.00001
NM_000051.4(ATM):c.8152-17G>A rs368924012 0.00001
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys) rs138526014 0.00001
NM_000051.4(ATM):c.8178T>C (p.Ala2726=) rs367575159 0.00001
NM_000051.4(ATM):c.8217G>A (p.Leu2739=) rs759069006 0.00001
NM_000051.4(ATM):c.8229G>A (p.Thr2743=) rs150603052 0.00001
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala) rs764003317 0.00001
NM_000051.4(ATM):c.8268+11G>A rs769204788 0.00001
NM_000051.4(ATM):c.8268+18T>C rs1555128701 0.00001
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr) rs746475628 0.00001
NM_000051.4(ATM):c.8355T>C (p.Asp2785=) rs372834825 0.00001
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser) rs1010206130 0.00001
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His) rs1020805015 0.00001
NM_000051.4(ATM):c.8385T>C (p.Asp2795=) rs1251164631 0.00001
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser) rs1555138027 0.00001
NM_000051.4(ATM):c.8466T>C (p.Asp2822=) rs1057523224 0.00001
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu) rs938431501 0.00001
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val) rs756230327 0.00001
NM_000051.4(ATM):c.8532T>C (p.Ile2844=) rs730881278 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8574T>C (p.Thr2858=) rs786203415 0.00001
NM_000051.4(ATM):c.8595A>T (p.Ile2865=) rs777245630 0.00001
NM_000051.4(ATM):c.8671+19G>C rs1308810219 0.00001
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp) rs748192003 0.00001
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile) rs587780643 0.00001
NM_000051.4(ATM):c.8730C>G (p.Leu2910=) rs551041839 0.00001
NM_000051.4(ATM):c.8787-14G>A rs994348665 0.00001
NM_000051.4(ATM):c.8787-15T>C rs1057521788 0.00001
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala) rs587782149 0.00001
NM_000051.4(ATM):c.8847A>G (p.Val2949=) rs876658820 0.00001
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys) rs898091069 0.00001
NM_000051.4(ATM):c.8850+10T>C rs762487236 0.00001
NM_000051.4(ATM):c.8850+17G>A rs1027667991 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8851-48G>A rs778014061 0.00001
NM_000051.4(ATM):c.8902T>C (p.Leu2968=) rs775313366 0.00001
NM_000051.4(ATM):c.8922G>A (p.Pro2974=) rs527248759 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln) rs587778081 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg) rs1064793579 0.00001
NM_000051.4(ATM):c.9060G>T (p.Val3020=) rs864622625 0.00001
NM_000051.4(ATM):c.9087T>G (p.Gly3029=) rs759675675 0.00001
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val) rs876660534 0.00001
NM_000051.3(ATM):c.5945A>T (p.Gln1982Leu) rs543980602
NM_000051.4(ATM):c.5763-11T>C rs1057520675
NM_000051.4(ATM):c.5763-12A>G rs1057523388
NM_000051.4(ATM):c.5763-13C>T rs1057522554
NM_000051.4(ATM):c.5763-14_5763-13del rs1064794707
NM_000051.4(ATM):c.5763-17_5763-16del rs1064793040
NM_000051.4(ATM):c.5763A>G (p.Arg1921=) rs1057523784
NM_000051.4(ATM):c.5769T>C (p.Ser1923=) rs1060504280
NM_000051.4(ATM):c.5787T>C (p.Asn1929=) rs1057520448
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5865A>G (p.Leu1955=) rs1555110432
NM_000051.4(ATM):c.5874A>G (p.Ala1958=) rs1591746375
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn) rs864622148
NM_000051.4(ATM):c.5904T>C (p.Asp1968=) rs1555110549
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr) rs730881377
NM_000051.4(ATM):c.5918+16A>G rs3092911
NM_000051.4(ATM):c.5948= (p.Ser1983=) rs659243
NM_000051.4(ATM):c.5961T>C (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.5961T>G (p.Ser1987=) rs1060504265
NM_000051.4(ATM):c.6003A>G (p.Leu2001=) rs1057523413
NM_000051.4(ATM):c.6006+17C>T
NM_000051.4(ATM):c.6007-19G>A rs1304200112
NM_000051.4(ATM):c.6007-8G>A rs1057524058
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln) rs375783941
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg) rs863224575
NM_000051.4(ATM):c.6087C>T (p.Pro2029=) rs1060504316
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile) rs1555113613
NM_000051.4(ATM):c.6095+47A>G
NM_000051.4(ATM):c.6095+4A>G rs1555113632
NM_000051.4(ATM):c.6099A>G (p.Leu2033=) rs1057521275
NM_000051.4(ATM):c.6100C>A (p.Arg2034=) rs532480170
NM_000051.4(ATM):c.6114C>G (p.His2038Gln) rs774993357
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val) rs1299506506
NM_000051.4(ATM):c.6120A>G (p.Ala2040=) rs1565499622
NM_000051.4(ATM):c.6144A>G (p.Thr2048=) rs1201081443
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp) rs786203767
NM_000051.4(ATM):c.6150C>T (p.Asp2050=) rs1057520805
NM_000051.4(ATM):c.6168C>T (p.Pro2056=) rs1057520449
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys) rs587778078
NM_000051.4(ATM):c.6179G>A (p.Arg2060His) rs376521407
NM_000051.4(ATM):c.6198+130G>A rs55982799
NM_000051.4(ATM):c.6199-17A>C rs1555114516
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe) rs767406075
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser) rs2084783116
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro) rs587780631
NM_000051.4(ATM):c.6298T>C (p.Tyr2100His) rs1555114752
NM_000051.4(ATM):c.6304G>C (p.Ala2102Pro) rs1565503340
NM_000051.4(ATM):c.6330C>T (p.Asp2110=) rs759029705
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser) rs573290117
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu) rs587780634
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000051.4(ATM):c.6347+31dup rs58978479
NM_000051.4(ATM):c.6347+47C>T
NM_000051.4(ATM):c.6347+4A>G rs1342227995
NM_000051.4(ATM):c.6348-12C>T rs1057521664
NM_000051.4(ATM):c.6348-19del
NM_000051.4(ATM):c.6348-44G>A
NM_000051.4(ATM):c.6378A>G (p.Glu2126=) rs1060504297
NM_000051.4(ATM):c.6381A>G (p.Ser2127=) rs1555116408
NM_000051.4(ATM):c.6401C>G (p.Ser2134Cys) rs2136220770
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro) rs1591100266
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs) rs863225466
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala) rs1263398076
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn) rs56815840
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile) rs730881382
NM_000051.4(ATM):c.6452+17A>C rs371044809
NM_000051.4(ATM):c.6452+9A>C rs771531015
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr) rs2136222746
NM_000051.4(ATM):c.6453-15C>T rs763296454
NM_000051.4(ATM):c.6453-37_6453-34del
NM_000051.4(ATM):c.6453-3T>C rs768073845
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr) rs1555117132
NM_000051.4(ATM):c.6498G>A (p.Val2166=) rs746514937
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys) rs1555117171
NM_000051.4(ATM):c.6516A>C (p.Thr2172=) rs576254168
NM_000051.4(ATM):c.6552C>T (p.Ser2184=) rs565124064
NM_000051.4(ATM):c.6572+20_6572+21del rs1064793041
NM_000051.4(ATM):c.6572+26T>A
NM_000051.4(ATM):c.6573-12C>T rs1057521666
NM_000051.4(ATM):c.6573-16_6573-15del rs1064794351
NM_000051.4(ATM):c.6573-25A>G
NM_000051.4(ATM):c.6573-30C>G
NM_000051.4(ATM):c.6573-34C>G
NM_000051.4(ATM):c.6573-36C>A
NM_000051.4(ATM):c.6573-36C>G
NM_000051.4(ATM):c.6573-41C>A
NM_000051.4(ATM):c.6573-41C>G
NM_000051.4(ATM):c.6573-42del rs11366542
NM_000051.4(ATM):c.6573-43_6573-42del rs11366542
NM_000051.4(ATM):c.6585T>C (p.His2195=) rs786203401
NM_000051.4(ATM):c.6603A>G (p.Val2201=) rs863224297
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr) rs1060501641
NM_000051.4(ATM):c.6681C>A (p.Arg2227=) rs775850434
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr) rs587781562
NM_000051.4(ATM):c.6718G>C (p.Asp2240His) rs587782478
NM_000051.4(ATM):c.6718_6719delinsTT (p.Asp2240Phe) rs2136314186
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser) rs786202583
NM_000051.4(ATM):c.6753C>T (p.Leu2251=) rs1057521515
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr) rs786203332
NM_000051.4(ATM):c.6777T>C (p.Ser2259=) rs1057522874
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu) rs3218699
NM_000051.4(ATM):c.6807+20_6807+21del rs1555119392
NM_000051.4(ATM):c.6807+8del rs1555119385
NM_000051.4(ATM):c.6808-32G>A
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu) rs1800061
NM_000051.4(ATM):c.6879G>A (p.Leu2293=) rs1555119859
NM_000051.4(ATM):c.6885A>G (p.Glu2295=) rs748221367
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr) rs1591134072
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln) rs1449259481
NM_000051.4(ATM):c.6975+13del rs763287238
NM_000051.4(ATM):c.6975+13dup rs763287238
NM_000051.4(ATM):c.6975+14dup rs1555120120
NM_000051.4(ATM):c.6975+20T>C rs781322757
NM_000051.4(ATM):c.6975+4T>G rs876660240
NM_000051.4(ATM):c.6975+7T>G rs754834282
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6975G>C (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6976-13C>T rs1555120901
NM_000051.4(ATM):c.6976-5T>C rs1555120913
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu) rs786202730
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys) rs150503164
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val) rs2085819145
NM_000051.4(ATM):c.7038A>G (p.Ala2346=) rs146167034
NM_000051.4(ATM):c.7049T>C (p.Leu2350Ser) rs2085820749
NM_000051.4(ATM):c.7089+7T>C rs1404350048
NM_000051.4(ATM):c.7090-14G>A rs1486032156
NM_000051.4(ATM):c.7090-14G>T rs1486032156
NM_000051.4(ATM):c.7107A>C (p.Gly2369=) rs1057523056
NM_000051.4(ATM):c.7122A>G (p.Glu2374=) rs376159946
NM_000051.4(ATM):c.7128T>G (p.Ser2376Arg) rs2136412428
NM_000051.4(ATM):c.7164C>A (p.Leu2388=) rs1239532344
NM_000051.4(ATM):c.7175delinsTCATTGA (p.Arg2392delinsLeuIleGlu) rs2136415518
NM_000051.4(ATM):c.7179T>C (p.Phe2393=) rs1057520430
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu) rs2085985186
NM_000051.4(ATM):c.7200A>G (p.Arg2400=) rs1060501534
NM_000051.4(ATM):c.7220C>T (p.Ser2407Leu)
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp) rs730881315
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu) rs730881315
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr) rs758351633
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp) rs2085991994
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser) rs786203311
NM_000051.4(ATM):c.7248C>T (p.Leu2416=) rs750513866
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr) rs1565527146
NM_000051.4(ATM):c.7273G>A (p.Gly2425Ser) rs2136421981
NM_000051.4(ATM):c.7284G>A (p.Arg2428=) rs1591152279
NM_000051.4(ATM):c.7299G>A (p.Gln2433=) rs1057520451
NM_000051.4(ATM):c.7307+32G>A
NM_000051.4(ATM):c.7307+8G>C rs1057523631
NM_000051.4(ATM):c.7308-10T>C rs745319720
NM_000051.4(ATM):c.7308-18T>C rs1473587970
NM_000051.4(ATM):c.7338G>C (p.Glu2446Asp)
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro) rs1555123032
NM_000051.4(ATM):c.7425A>G (p.Leu2475=) rs1555123162
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr) rs1555123191
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg) rs1555123216
NM_000051.4(ATM):c.7470C>G (p.Leu2490=) rs1057521604
NM_000051.4(ATM):c.7515+45_7515+46del
NM_000051.4(ATM):c.7516-18_7516-17delinsAAT rs1555123881
NM_000051.4(ATM):c.7516-5G>A rs1057520837
NM_000051.4(ATM):c.7516-6T>C rs1057521003
NM_000051.4(ATM):c.7516-9del rs573494809
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile) rs1591167543
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr) rs769142993
NM_000051.4(ATM):c.7629+13G>A rs563651647
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp) rs1322308382
NM_000051.4(ATM):c.7686C>T (p.Ala2562=) rs1555124531
NM_000051.4(ATM):c.7714C>T (p.Leu2572=) rs1472587727
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile) rs761790685
NM_000051.4(ATM):c.7782T>A (p.Leu2594=) rs905474729
NM_000051.4(ATM):c.7788+3A>G rs869312788
NM_000051.4(ATM):c.7789-16dup rs776103192
NM_000051.4(ATM):c.7789-25A>G
NM_000051.4(ATM):c.7789-9dup rs1555125203
NM_000051.4(ATM):c.7794A>C (p.Arg2598=) rs1555125220
NM_000051.4(ATM):c.7852A>C (p.Arg2618=) rs1057521185
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile) rs2086428372
NM_000051.4(ATM):c.7927+13del rs587781324
NM_000051.4(ATM):c.7927+13dup rs587781324
NM_000051.4(ATM):c.7927+5G>A rs1299306446
NM_000051.4(ATM):c.7927+7T>G rs1057521294
NM_000051.4(ATM):c.7928-54_7928-49del
NM_000051.4(ATM):c.8010+11A>C rs760588708
NM_000051.4(ATM):c.8010+19T>C rs1555126346
NM_000051.4(ATM):c.8010+30dup rs3218702
NM_000051.4(ATM):c.8010+38A>G
NM_000051.4(ATM):c.8010+46del
NM_000051.4(ATM):c.8011-16T>C rs776948701
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr) rs1555127024
NM_000051.4(ATM):c.8046T>C (p.Thr2682=) rs876660435
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del) rs1565540828
NM_000051.4(ATM):c.8082A>C (p.Gly2694=) rs540266635
NM_000051.4(ATM):c.8085T>G (p.Gly2695=) rs1057520554
NM_000051.4(ATM):c.8094A>G (p.Leu2698=) rs786203569
NM_000051.4(ATM):c.8103A>G (p.Ile2701Met)
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val) rs2086688080
NM_000051.4(ATM):c.8148T>C (p.Val2716=)
NM_000051.4(ATM):c.8151+3G>A rs760065522
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn) rs876659066
NM_000051.4(ATM):c.8208T>C (p.Asn2736=) rs1057523318
NM_000051.4(ATM):c.8211A>G (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8211A>T (p.Thr2737=) rs876660946
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala) rs2086799919
NM_000051.4(ATM):c.8262T>G (p.Thr2754=) rs1057521506
NM_000051.4(ATM):c.8268+14C>T rs1057520231
NM_000051.4(ATM):c.8268+15T>G rs1555128691
NM_000051.4(ATM):c.8268+17C>T rs1555128698
NM_000051.4(ATM):c.8268+39_8268+40del
NM_000051.4(ATM):c.8268+7A>G rs1057524565
NM_000051.4(ATM):c.8268G>A (p.Lys2756=) rs1555128642
NM_000051.4(ATM):c.8269-10_8269-9del rs587780641
NM_000051.4(ATM):c.8269-39G>T
NM_000051.4(ATM):c.8269-3C>T rs1555135336
NM_000051.4(ATM):c.8295T>C (p.Gly2765=)
NM_000051.4(ATM):c.8310C>T (p.Cys2770=) rs1555135544
NM_000051.4(ATM):c.8325C>T (p.Pro2775=)
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn) rs587782417
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly) rs1591248589
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val) rs879253877
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser) rs1174335574
NM_000051.4(ATM):c.8412A>G (p.Lys2804=) rs1555135872
NM_000051.4(ATM):c.8418+28T>C
NM_000051.4(ATM):c.8419-17A>G rs1057520452
NM_000051.4(ATM):c.8419-24_8419-21del
NM_000051.4(ATM):c.8419-37A>G
NM_000051.4(ATM):c.8419-38_8419-37del
NM_000051.4(ATM):c.8419-54_8419-49del
NM_000051.4(ATM):c.8419-8A>G rs567215034
NM_000051.4(ATM):c.8421G>A (p.Glu2807=) rs1555137945
NM_000051.4(ATM):c.8448A>G (p.Lys2816=) rs1555138048
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr) rs876660927
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys) rs121434216
NM_000051.4(ATM):c.8526A>G (p.Pro2842=) rs900737596
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly) rs587778080
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=) rs779394254
NM_000051.4(ATM):c.8559G>A (p.Thr2853=) rs368058202
NM_000051.4(ATM):c.8562C>T (p.Arg2854=) rs878853550
NM_000051.4(ATM):c.8584+13T>C rs1057522394
NM_000051.4(ATM):c.8584+9_8584+11del rs1064794534
NM_000051.4(ATM):c.8585-17_8585-14del rs764013510
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg) rs2137079086
NM_000051.4(ATM):c.8605G>C (p.Gly2869Arg) rs748855312
NM_000051.4(ATM):c.8615A>G (p.His2872Arg) rs1591273938
NM_000051.4(ATM):c.8628C>T (p.Ile2876=) rs1555139577
NM_000051.4(ATM):c.8660A>C (p.His2887Pro) rs864622173
NM_000051.4(ATM):c.8671+20T>C rs1057521774
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg) rs1565567541
NM_000051.4(ATM):c.8672-13T>G rs730881280
NM_000051.4(ATM):c.8672-9T>C rs2137283941
NM_000051.4(ATM):c.8681T>C (p.Phe2894Ser)
NM_000051.4(ATM):c.8698C>G (p.Leu2900Val)
NM_000051.4(ATM):c.8702C>T (p.Pro2901Leu) rs1565579149
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala) rs2137288475
NM_000051.4(ATM):c.8706T>C (p.Thr2902=) rs1555142824
NM_000051.4(ATM):c.8715A>G (p.Thr2905=) rs786202933
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile) rs794728018
NM_000051.4(ATM):c.8733C>A (p.Thr2911=) rs1057523011
NM_000051.4(ATM):c.8757C>T (p.Gly2919=) rs987508358
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys) rs730881329
NM_000051.4(ATM):c.8763G>T (p.Thr2921=) rs781528244
NM_000051.4(ATM):c.8786+11T>G rs368627124
NM_000051.4(ATM):c.8786+16T>C rs1057521277
NM_000051.4(ATM):c.8786+90G>A rs179108
NM_000051.4(ATM):c.8787-19A>G rs1555143457
NM_000051.4(ATM):c.8787-25G>A
NM_000051.4(ATM):c.8787-55C>T rs664982
NM_000051.4(ATM):c.8787-5T>C rs1479499265
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val) rs1333760745
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala) rs2089701066
NM_000051.4(ATM):c.8850+12dup rs1555143639
NM_000051.4(ATM):c.8850+14T>C rs1294857465
NM_000051.4(ATM):c.8850+25_8850+26del
NM_000051.4(ATM):c.8850+28T>G
NM_000051.4(ATM):c.8850+5A>C rs1057522186
NM_000051.4(ATM):c.8850+5dup rs1400626849
NM_000051.4(ATM):c.8850+8A>G rs1057520908
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His) rs371619067
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu) rs1555151244
NM_000051.4(ATM):c.8868A>T (p.Pro2956=) rs1157772894
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe) rs200899512
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys) rs376524155
NM_000051.4(ATM):c.8919G>A (p.Arg2973=) rs786203613
NM_000051.4(ATM):c.8928T>C (p.Asp2976=) rs786202343
NM_000051.4(ATM):c.8934T>C (p.Thr2978=) rs1057521029
NM_000051.4(ATM):c.8937G>A (p.Glu2979=) rs876658242
NM_000051.4(ATM):c.8987+20G>T rs1555151566
NM_000051.4(ATM):c.8988-8G>A rs1555151666
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn) rs587781413
NM_000051.4(ATM):c.9024T>C (p.Arg3008=) rs876658179
NM_000051.4(ATM):c.9048A>G (p.Lys3016=) rs553001467
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp) rs769548726
NM_000051.4(ATM):c.9076C>G (p.Leu3026Val)
NM_000051.4(ATM):c.9084T>C (p.Val3028=) rs786203210
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val) rs201199629
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe) rs1555152033
NM_000051.4(ATM):c.9135C>T (p.Leu3045=) rs2137926498
NM_000051.4(ATM):c.9142C>T (p.Leu3048Phe) rs876660534
NM_000051.4(ATM):c.9153A>C (p.Gly3051=) rs1555152080
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser) rs2137930567
NM_000051.4(ATM):c.9168G>A (p.Val3056=) rs1591388522

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.