ClinVar Miner

List of variants in gene ATM reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 476
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.2125-68T>C rs2235008 0.01573
NM_000051.4(ATM):c.2124+303A>C rs4987953 0.01539
NM_000051.4(ATM):c.-30-180C>T rs4987897 0.01399
NM_000051.4(ATM):c.1803-154G>A rs55760417 0.01396
NM_000051.4(ATM):c.1236-193C>T rs4987942 0.01394
NM_000051.4(ATM):c.5496+294T>A rs4988040 0.01393
NM_000051.4(ATM):c.5178-150T>C rs4988035 0.01391
NM_000051.4(ATM):c.185+246T>A rs4987899 0.01239
NM_000051.4(ATM):c.5762+119G>A rs4988059 0.01175
NM_000051.4(ATM):c.3402+70A>G rs3218671 0.01120
NM_000051.4(ATM):c.1066-57G>A rs4987935 0.00993
NM_000051.4(ATM):c.497-2686C>T rs58745314 0.00975
NM_000051.4(ATM):c.3993+40G>A rs3218709 0.00933
NM_000051.4(ATM):c.2839-337G>A rs4987980 0.00926
NM_000051.4(ATM):c.2250+78G>A rs2235010 0.00903
NM_000051.4(ATM):c.5674+102A>G rs4988045 0.00901
NM_000051.4(ATM):c.5320-171C>A rs138237074 0.00864
NM_000051.4(ATM):c.1066-230A>G rs144307279 0.00836
NM_000051.4(ATM):c.2839-384T>A rs4987979 0.00733
NM_000051.4(ATM):c.5320-285A>C rs4988038 0.00731
NM_000051.4(ATM):c.901+99C>A rs1800755 0.00711
NM_000051.4(ATM):c.2124+109A>G rs4987952 0.00662
NM_000051.4(ATM):c.497-2423T>G rs56075601 0.00649
NM_000051.4(ATM):c.1802+273G>A rs139045926 0.00643
NM_000051.4(ATM):c.3994-121del rs56013141 0.00643
NM_000051.4(ATM):c.332-158T>A rs76066256 0.00605
NM_000051.4(ATM):c.497-2482A>G rs78813088 0.00569
NM_000051.4(ATM):c.497-316A>G rs147476994 0.00556
NM_000051.4(ATM):c.2838+291A>G rs189872799 0.00520
NM_000051.4(ATM):c.1608-194T>C rs4987944 0.00515
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.5762+27G>A rs3218686 0.00428
NM_000051.4(ATM):c.2250+22A>C rs3218692 0.00419
NM_000051.4(ATM):c.2250+34A>C rs3218705 0.00419
NM_000051.4(ATM):c.5005+21_5005+22insGC rs547799081 0.00378
NM_000051.4(ATM):c.5320-74T>C rs56260201 0.00366
NM_000051.4(ATM):c.5319+150A>C rs80195777 0.00339
NM_000051.4(ATM):c.5006-275G>A rs4988028 0.00335
NM_000051.4(ATM):c.5497-168T>C rs142080730 0.00329
NM_000051.4(ATM):c.3077+209C>G rs184668394 0.00325
NM_000051.4(ATM):c.2466+87T>G rs145659155 0.00304
NM_000051.4(ATM):c.5006-198C>T rs4988029 0.00301
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000051.4(ATM):c.2125-88T>A rs189045169 0.00098
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00077
NM_000051.4(ATM):c.3403-184T>C rs1020943455 0.00064
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000051.4(ATM):c.2251-19T>C rs370713089 0.00024
NM_000051.4(ATM):c.2467-31T>C rs141761716 0.00017
NM_000051.4(ATM):c.3403-16_3403-15insA rs569564716 0.00016
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp) rs147600485 0.00014
NM_000051.4(ATM):c.2839-18T>C rs553155942 0.00012
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.1911A>G (p.Gln637=) rs764790965 0.00009
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.332-3T>C rs376116157 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.663-43T>A rs4987918 0.00008
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.3639T>C (p.His1213=) rs142766756 0.00006
NM_000051.4(ATM):c.4449C>T (p.Ile1483=) rs786203726 0.00006
NM_000051.4(ATM):c.5005+17C>G rs200688912 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.4437-14T>C rs900984301 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000051.4(ATM):c.5005+14A>T rs374337879 0.00005
NM_000051.4(ATM):c.-30-17A>G rs549786728 0.00004
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.2124+13A>T rs199648955 0.00004
NM_000051.4(ATM):c.2958T>G (p.Val986=) rs745971584 0.00004
NM_000051.4(ATM):c.3012C>T (p.Ser1004=) rs751260996 0.00004
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=) rs780240314 0.00004
NM_000051.4(ATM):c.3468G>A (p.Thr1156=) rs148358896 0.00004
NM_000051.4(ATM):c.3577-6G>A rs56006345 0.00004
NM_000051.4(ATM):c.3777G>A (p.Leu1259=) rs780192529 0.00004
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu) rs587779841 0.00004
NM_000051.4(ATM):c.4777-13T>A rs371535082 0.00004
NM_000051.4(ATM):c.510G>A (p.Val170=) rs375682557 0.00004
NM_000051.4(ATM):c.5496+11T>C rs751491395 0.00004
NM_000051.4(ATM):c.-24A>G rs890413530 0.00003
NM_000051.4(ATM):c.-30-19A>G rs763900742 0.00003
NM_000051.4(ATM):c.-43T>G rs982834411 0.00003
NM_000051.4(ATM):c.1608-3T>C rs774196176 0.00003
NM_000051.4(ATM):c.2396C>T (p.Ala799Val) rs199954262 0.00003
NM_000051.4(ATM):c.2697C>T (p.Asp899=) rs786202978 0.00003
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.3237T>C (p.Ala1079=) rs564238520 0.00003
NM_000051.4(ATM):c.3402+10A>C rs919002854 0.00003
NM_000051.4(ATM):c.4008C>T (p.Phe1336=) rs748055132 0.00003
NM_000051.4(ATM):c.4437-7A>G rs370354306 0.00003
NM_000051.4(ATM):c.4731T>C (p.Thr1577=) rs145236132 0.00003
NM_000051.4(ATM):c.1104A>G (p.Gln368=) rs560691658 0.00002
NM_000051.4(ATM):c.1392G>A (p.Leu464=) rs760191806 0.00002
NM_000051.4(ATM):c.1596C>T (p.Cys532=) rs564050785 0.00002
NM_000051.4(ATM):c.1947A>G (p.Glu649=) rs1032244771 0.00002
NM_000051.4(ATM):c.2082T>C (p.Leu694=) rs369642243 0.00002
NM_000051.4(ATM):c.2921+16C>A rs558376224 0.00002
NM_000051.4(ATM):c.381A>G (p.Thr127=) rs762582522 0.00002
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile) rs35184530 0.00002
NM_000051.4(ATM):c.4332G>A (p.Leu1444=) rs753570046 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.4482T>C (p.Cys1494=) rs769071554 0.00002
NM_000051.4(ATM):c.4575A>T (p.Ile1525=) rs781539071 0.00002
NM_000051.4(ATM):c.5002C>T (p.Leu1668=) rs747317946 0.00002
NM_000051.4(ATM):c.5005+8A>G rs1204604787 0.00002
NM_000051.4(ATM):c.5006-18T>A rs768321973 0.00002
NM_000051.4(ATM):c.5649C>T (p.Ser1883=) rs1057522721 0.00002
NM_000051.4(ATM):c.5762+6G>A rs776532221 0.00002
NM_000051.4(ATM):c.-30-15G>A rs776227873 0.00001
NM_000051.4(ATM):c.-31+12G>A rs962403813 0.00001
NM_000051.4(ATM):c.1065+18T>A rs774940342 0.00001
NM_000051.4(ATM):c.1110C>T (p.Tyr370=) rs376170600 0.00001
NM_000051.4(ATM):c.1302A>G (p.Pro434=) rs1555070715 0.00001
NM_000051.4(ATM):c.1329A>C (p.Leu443=) rs201460863 0.00001
NM_000051.4(ATM):c.1335A>G (p.Gln445=) rs1385656085 0.00001
NM_000051.4(ATM):c.138T>C (p.His46=) rs770834907 0.00001
NM_000051.4(ATM):c.1515T>C (p.Phe505=) rs1057520521 0.00001
NM_000051.4(ATM):c.1607+16A>G rs1057522219 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1662G>A (p.Thr554=) rs764646531 0.00001
NM_000051.4(ATM):c.1758G>A (p.Glu586=) rs1555072017 0.00001
NM_000051.4(ATM):c.1802+7T>G rs1057521381 0.00001
NM_000051.4(ATM):c.185+10T>C rs1555054317 0.00001
NM_000051.4(ATM):c.186-19G>A rs748791429 0.00001
NM_000051.4(ATM):c.1893A>G (p.Pro631=) rs764702196 0.00001
NM_000051.4(ATM):c.1898+9T>C rs1057520836 0.00001
NM_000051.4(ATM):c.1899-11C>T rs730881282 0.00001
NM_000051.4(ATM):c.192A>G (p.Leu64=) rs587780616 0.00001
NM_000051.4(ATM):c.2019G>A (p.Lys673=) rs786203021 0.00001
NM_000051.4(ATM):c.2124+6A>T rs550998406 0.00001
NM_000051.4(ATM):c.2175C>T (p.Val725=) rs140110298 0.00001
NM_000051.4(ATM):c.2181C>T (p.Gly727=) rs876658836 0.00001
NM_000051.4(ATM):c.2238C>T (p.Phe746=) rs786203595 0.00001
NM_000051.4(ATM):c.2373C>T (p.Thr791=) rs878853494 0.00001
NM_000051.4(ATM):c.2377-18T>C rs761207086 0.00001
NM_000051.4(ATM):c.2377-19T>G rs775771700 0.00001
NM_000051.4(ATM):c.2466A>G (p.Leu822=) rs747108452 0.00001
NM_000051.4(ATM):c.2467-7C>T rs768850329 0.00001
NM_000051.4(ATM):c.246A>G (p.Val82=) rs757944864 0.00001
NM_000051.4(ATM):c.2475C>T (p.Phe825=) rs776907383 0.00001
NM_000051.4(ATM):c.2532A>G (p.Gly844=) rs755261743 0.00001
NM_000051.4(ATM):c.2571A>G (p.Leu857=) rs1191404395 0.00001
NM_000051.4(ATM):c.2589T>C (p.Asp863=) rs1057520227 0.00001
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr) rs370269552 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2639-3T>C rs1410247657 0.00001
NM_000051.4(ATM):c.2639-7T>C rs912886321 0.00001
NM_000051.4(ATM):c.2748G>T (p.Val916=) rs1050470790 0.00001
NM_000051.4(ATM):c.2838+13A>G rs778502800 0.00001
NM_000051.4(ATM):c.2838+20G>A rs1310769991 0.00001
NM_000051.4(ATM):c.2839-16C>T rs761953913 0.00001
NM_000051.4(ATM):c.2859G>A (p.Glu953=) rs569489729 0.00001
NM_000051.4(ATM):c.2921+15C>A rs1057521619 0.00001
NM_000051.4(ATM):c.2934T>G (p.Ser978=) rs368678134 0.00001
NM_000051.4(ATM):c.2970T>C (p.Ile990=) rs2081569239 0.00001
NM_000051.4(ATM):c.3108C>T (p.Phe1036=) rs867514913 0.00001
NM_000051.4(ATM):c.3126A>G (p.Leu1042=) rs770038542 0.00001
NM_000051.4(ATM):c.3138T>G (p.Leu1046=) rs3092858 0.00001
NM_000051.4(ATM):c.3154-11T>C rs748543045 0.00001
NM_000051.4(ATM):c.3284+7G>C rs371629629 0.00001
NM_000051.4(ATM):c.3303G>A (p.Lys1101=) rs925487325 0.00001
NM_000051.4(ATM):c.331+7G>A rs1184757004 0.00001
NM_000051.4(ATM):c.3402+5T>C rs1057520229 0.00001
NM_000051.4(ATM):c.3402+9A>G rs761919506 0.00001
NM_000051.4(ATM):c.3411T>C (p.Ser1137=) rs369518512 0.00001
NM_000051.4(ATM):c.3504C>T (p.Cys1168=) rs876658368 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3577-7C>T rs558667657 0.00001
NM_000051.4(ATM):c.3746+17C>T rs1057520850 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.3747-8A>G rs569612113 0.00001
NM_000051.4(ATM):c.3771A>C (p.Pro1257=) rs1057523320 0.00001
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp) rs587781787 0.00001
NM_000051.4(ATM):c.4056T>C (p.His1352=) rs587780622 0.00001
NM_000051.4(ATM):c.4071T>C (p.Ser1357=) rs767516955 0.00001
NM_000051.4(ATM):c.4109+11T>C rs749158400 0.00001
NM_000051.4(ATM):c.4109+4T>C rs754706599 0.00001
NM_000051.4(ATM):c.411C>T (p.Tyr137=) rs756160533 0.00001
NM_000051.4(ATM):c.4149G>A (p.Ser1383=) rs749180334 0.00001
NM_000051.4(ATM):c.4237-13G>A rs778685615 0.00001
NM_000051.4(ATM):c.4237-8T>C rs750427647 0.00001
NM_000051.4(ATM):c.42A>G (p.Gln14=) rs771378101 0.00001
NM_000051.4(ATM):c.433C>T (p.Leu145=) rs587782328 0.00001
NM_000051.4(ATM):c.4398A>G (p.Arg1466=) rs142728382 0.00001
NM_000051.4(ATM):c.4401C>T (p.Asp1467=) rs876660356 0.00001
NM_000051.4(ATM):c.4436+10A>G rs878853509 0.00001
NM_000051.4(ATM):c.4437-20T>G rs558432723 0.00001
NM_000051.4(ATM):c.4518G>A (p.Val1506=) rs1057524110 0.00001
NM_000051.4(ATM):c.4569A>G (p.Thr1523=) rs1555099963 0.00001
NM_000051.4(ATM):c.4611+19T>C rs776602821 0.00001
NM_000051.4(ATM):c.4611+9C>G rs760704159 0.00001
NM_000051.4(ATM):c.4615T>C (p.Leu1539=) rs976206782 0.00001
NM_000051.4(ATM):c.4677T>A (p.Ile1559=) rs759660081 0.00001
NM_000051.4(ATM):c.4777-15C>T rs1057521023 0.00001
NM_000051.4(ATM):c.4779A>G (p.Glu1593=) rs587778076 0.00001
NM_000051.4(ATM):c.4821A>G (p.Pro1607=) rs786203559 0.00001
NM_000051.4(ATM):c.4878T>C (p.Asp1626=) rs755687834 0.00001
NM_000051.4(ATM):c.4910-16A>T rs866500582 0.00001
NM_000051.4(ATM):c.4910-4C>T rs786202493 0.00001
NM_000051.4(ATM):c.493T>C (p.Leu165=) rs878853514 0.00001
NM_000051.4(ATM):c.497-14T>A rs757147178 0.00001
NM_000051.4(ATM):c.5157T>C (p.Asn1719=) rs786203254 0.00001
NM_000051.4(ATM):c.5319+3C>A rs371640963 0.00001
NM_000051.4(ATM):c.5320-10T>C rs864622731 0.00001
NM_000051.4(ATM):c.5634G>A (p.Ser1878=) rs767070325 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln) rs370680798 0.00001
NM_000051.4(ATM):c.5718A>G (p.Gln1906=) rs863224293 0.00001
NM_000051.4(ATM):c.702A>G (p.Ala234=) rs752751588 0.00001
NM_000051.4(ATM):c.717C>T (p.Phe239=) rs779410490 0.00001
NM_000051.4(ATM):c.73-15C>A rs1216989217 0.00001
NM_000051.4(ATM):c.762A>G (p.Leu254=) rs1313709939 0.00001
NM_000051.4(ATM):c.901+12A>G rs759379354 0.00001
NM_000051.4(ATM):c.901+7A>G rs1057523569 0.00001
NM_000051.4(ATM):c.97C>T (p.Leu33=) rs1057522542 0.00001
NM_000051.4(ATM):c.993G>A (p.Lys331=) rs786202048 0.00001
NM_000051.3(ATM):c.-30_-27delACAG
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.4(ATM):c.-18G>C rs374303671
NM_000051.4(ATM):c.-25G>T rs1422476659
NM_000051.4(ATM):c.-27G>T rs1057522375
NM_000051.4(ATM):c.-31+6G>T rs1555051184
NM_000051.4(ATM):c.-42C>T rs1057523482
NM_000051.4(ATM):c.-47A>G rs1057523231
NM_000051.4(ATM):c.1005A>G (p.Gly335=) rs1555068481
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.4(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.4(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.4(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.4(ATM):c.1236-3T>C rs763976313
NM_000051.4(ATM):c.1257A>G (p.Leu419=) rs779037197
NM_000051.4(ATM):c.1266G>A (p.Lys422=) rs1057520445
NM_000051.4(ATM):c.1314A>C (p.Ile438=) rs770573462
NM_000051.4(ATM):c.1327C>T (p.Leu443=) rs1057524185
NM_000051.4(ATM):c.1356A>G (p.Thr452=) rs1555070803
NM_000051.4(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.4(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.4(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.4(ATM):c.1607+13T>C rs1057522249
NM_000051.4(ATM):c.1608-12G>C rs749269085
NM_000051.4(ATM):c.1608-8del rs1064794419
NM_000051.4(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.4(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.4(ATM):c.1776C>T (p.Ser592=) rs1057524304
NM_000051.4(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.4(ATM):c.1802+16T>C rs995327985
NM_000051.4(ATM):c.1802+16del rs1064794466
NM_000051.4(ATM):c.185+10T>G rs1555054317
NM_000051.4(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.4(ATM):c.1899-348_1899-344del rs200029320
NM_000051.4(ATM):c.1902A>G (p.Glu634=) rs1060501633
NM_000051.4(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.4(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.4(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.4(ATM):c.1989A>G (p.Leu663=) rs786202748
NM_000051.4(ATM):c.201T>C (p.Tyr67=) rs1555055083
NM_000051.4(ATM):c.2028C>T (p.Ser676=) rs375196053
NM_000051.4(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.4(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.4(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.4(ATM):c.2068C>T (p.Leu690=) rs1555073437
NM_000051.4(ATM):c.2124+19dup rs35211268
NM_000051.4(ATM):c.2125-12del rs1555074807
NM_000051.4(ATM):c.2125-16T>C rs1057523016
NM_000051.4(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.4(ATM):c.2250+15A>G rs1057523706
NM_000051.4(ATM):c.2250+329C>A rs181049353
NM_000051.4(ATM):c.2251-115dup rs4987959
NM_000051.4(ATM):c.2251-18del rs730881284
NM_000051.4(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.4(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.4(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.4(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.4(ATM):c.2346A>C (p.Leu782=) rs730881285
NM_000051.4(ATM):c.2376+16del rs779169817
NM_000051.4(ATM):c.2376+17C>T rs1555075846
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2377-15_2377-12del rs730881298
NM_000051.4(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.4(ATM):c.2403C>A (p.Gly801=) rs1264455310
NM_000051.4(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.4(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.4(ATM):c.2467-277C>G rs4987967
NM_000051.4(ATM):c.2467-4G>T rs1555082048
NM_000051.4(ATM):c.2467-8C>T rs1425701157
NM_000051.4(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.4(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.4(ATM):c.2638+11A>G rs1057521911
NM_000051.4(ATM):c.2638+155del rs539495734
NM_000051.4(ATM):c.2638+18A>G rs1057521739
NM_000051.4(ATM):c.2639-27_2639-22del rs4987971
NM_000051.4(ATM):c.2639-87del rs4987970
NM_000051.4(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.4(ATM):c.2739C>A (p.Thr913=) rs1555083293
NM_000051.4(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.4(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.4(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.4(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.4(ATM):c.2826C>T (p.Leu942=) rs1025892576
NM_000051.4(ATM):c.2838+10G>A rs1555083482
NM_000051.4(ATM):c.2838+9C>A rs370160823
NM_000051.4(ATM):c.2839-351del rs199782940
NM_000051.4(ATM):c.2839-418TG[8] rs546616992
NM_000051.4(ATM):c.2839-4T>C rs1057522619
NM_000051.4(ATM):c.2839-7A>G rs1445472389
NM_000051.4(ATM):c.2844A>G (p.Leu948=) rs1555084628
NM_000051.4(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.4(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.4(ATM):c.2917C>T (p.Leu973=) rs535646511
NM_000051.4(ATM):c.2922-14T>C rs761100734
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922C>T (p.Ser974=) rs758045139
NM_000051.4(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.4(ATM):c.3077+13T>A rs1057524204
NM_000051.4(ATM):c.3077+15T>C rs1555085277
NM_000051.4(ATM):c.3078-12A>T rs1555085749
NM_000051.4(ATM):c.3153+18T>G rs1555085921
NM_000051.4(ATM):c.3153+20T>A rs200786429
NM_000051.4(ATM):c.3153+20dup rs760492979
NM_000051.4(ATM):c.3154-20C>T rs1057522141
NM_000051.4(ATM):c.3154-4G>T rs199543313
NM_000051.4(ATM):c.3154-7C>T rs756615573
NM_000051.4(ATM):c.315C>T (p.Ile105=) rs1057522344
NM_000051.4(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.4(ATM):c.3270A>G (p.Ala1090=) rs997005308
NM_000051.4(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.4(ATM):c.3284+9T>C rs1555086278
NM_000051.4(ATM):c.3285-12G>A rs1057521452
NM_000051.4(ATM):c.3285-16G>T rs1057524332
NM_000051.4(ATM):c.3285-31TTTG[3] rs750490644
NM_000051.4(ATM):c.3285-31TTTG[5] rs750490644
NM_000051.4(ATM):c.331+69del rs11390378
NM_000051.4(ATM):c.332-159del rs535426066
NM_000051.4(ATM):c.332-5A>T rs1057522447
NM_000051.4(ATM):c.332-7G>T rs1591474291
NM_000051.4(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.4(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.4(ATM):c.3402+18G>A rs752000273
NM_000051.4(ATM):c.3402+32_3402+34del rs545376366
NM_000051.4(ATM):c.3403-14_3403-13dup rs3218681
NM_000051.4(ATM):c.3417G>A (p.Glu1139=) rs879254069
NM_000051.4(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.4(ATM):c.3456T>G (p.Ser1152=) rs2135666779
NM_000051.4(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.4(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.4(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.4(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.4(ATM):c.3576+10G>A rs1057523063
NM_000051.4(ATM):c.3577-157A>C rs190528933
NM_000051.4(ATM):c.3577-15T>C rs1057521733
NM_000051.4(ATM):c.3577-242_3577-233del rs138417879
NM_000051.4(ATM):c.3577-8T>C rs1555092222
NM_000051.4(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.4(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.4(ATM):c.3746+17C>G rs1057520850
NM_000051.4(ATM):c.3746+4A>C rs1555092593
NM_000051.4(ATM):c.3746+4A>G rs1555092593
NM_000051.4(ATM):c.3747-173T>C rs373028945
NM_000051.4(ATM):c.3747-304G>T rs4987991
NM_000051.4(ATM):c.3747-7T>C rs1057523136
NM_000051.4(ATM):c.3771A>G (p.Pro1257=) rs1057523320
NM_000051.4(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.4(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.4(ATM):c.3888T>C (p.Pro1296=) rs1555093582
NM_000051.4(ATM):c.3897C>T (p.Ala1299=) rs760491475
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.4(ATM):c.3942T>C (p.Thr1314=) rs558360643
NM_000051.4(ATM):c.3993+12A>G rs1057520703
NM_000051.4(ATM):c.3994-11_3994-4del rs1060501665
NM_000051.4(ATM):c.3994-12G>A rs1057520398
NM_000051.4(ATM):c.3994-12G>T rs1057520398
NM_000051.4(ATM):c.3994-9C>T rs767111803
NM_000051.4(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.4(ATM):c.4062A>C (p.Pro1354=) rs1555095974
NM_000051.4(ATM):c.408T>A (p.Ile136=) rs2135123307
NM_000051.4(ATM):c.4109+15A>C rs1057523527
NM_000051.4(ATM):c.4110-18T>C rs1057523967
NM_000051.4(ATM):c.4173C>G (p.Ala1391=) rs1060504284
NM_000051.4(ATM):c.4236+15_4236+17del rs1064794349
NM_000051.4(ATM):c.4237-19A>C rs753311330
NM_000051.4(ATM):c.4237-9_4237-7del rs1555097355
NM_000051.4(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.4(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.4(ATM):c.4436+12A>G rs1057521715
NM_000051.4(ATM):c.4436+163_4436+165dup rs201061190
NM_000051.4(ATM):c.4436+20C>G rs1057523454
NM_000051.4(ATM):c.4436+7A>G rs749971237
NM_000051.4(ATM):c.4437-14del rs730881290
NM_000051.4(ATM):c.4437-3T>C rs1555099722
NM_000051.4(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.4(ATM):c.4560T>C (p.Ile1520=) rs1057520925
NM_000051.4(ATM):c.4584G>T (p.Val1528=) rs1555100000
NM_000051.4(ATM):c.4611+12A>G rs1057520230
NM_000051.4(ATM):c.4611+18C>T rs1057522843
NM_000051.4(ATM):c.4611+8T>C rs1057522426
NM_000051.4(ATM):c.4612-122G>A rs4988009
NM_000051.4(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.4(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.4(ATM):c.4713T>C (p.Phe1571=) rs750027746
NM_000051.4(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.4(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.4(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.4(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.4(ATM):c.4776+17C>G rs767641642
NM_000051.4(ATM):c.4777-10dup rs1398289633
NM_000051.4(ATM):c.4803T>C (p.Ser1601=) rs964364958
NM_000051.4(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.4(ATM):c.482A>C (p.Gln161Pro) rs587780625
NM_000051.4(ATM):c.4833T>A (p.Leu1611=) rs769025179
NM_000051.4(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.4(ATM):c.4842A>G (p.Leu1614=) rs1057520429
NM_000051.4(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.4(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.4(ATM):c.4910-7T>A rs3092872
NM_000051.4(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.4(ATM):c.496+14G>C rs776887214
NM_000051.4(ATM):c.496+18T>C rs762171014
NM_000051.4(ATM):c.496+4T>G rs587781375
NM_000051.4(ATM):c.497-2421_497-2418del rs370425572
NM_000051.4(ATM):c.5005+15T>C rs377355762
NM_000051.4(ATM):c.5006-8A>G rs1057520447
NM_000051.4(ATM):c.5006-8A>T rs1057520447
NM_000051.4(ATM):c.5061T>A (p.Ala1687=) rs1555104600
NM_000051.4(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.4(ATM):c.5091C>T (p.Thr1697=) rs1555104680
NM_000051.4(ATM):c.5127G>A (p.Gln1709=) rs1057521839
NM_000051.4(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.4(ATM):c.5151C>T (p.Tyr1717=) rs1057523468
NM_000051.4(ATM):c.5178-11G>A rs200876654
NM_000051.4(ATM):c.5178-18T>C rs1057522381
NM_000051.4(ATM):c.5178-5T>C rs1555105570
NM_000051.4(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.4(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.4(ATM):c.5320-14C>T rs182663175
NM_000051.4(ATM):c.537A>T (p.Ser179=) rs1555066338
NM_000051.4(ATM):c.5430T>G (p.Thr1810=) rs1057522229
NM_000051.4(ATM):c.5496+11T>G rs751491395
NM_000051.4(ATM):c.5497-9A>G rs878853524
NM_000051.4(ATM):c.5559T>C (p.Asp1853=) rs1555107393
NM_000051.4(ATM):c.5571A>G (p.Ser1857=) rs777570286
NM_000051.4(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.4(ATM):c.5640G>T (p.Thr1880=) rs757103582
NM_000051.4(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.4(ATM):c.662+13_662+14del rs1064795370
NM_000051.4(ATM):c.662+8_662+12del rs864622475
NM_000051.4(ATM):c.663-269C>G rs149955262
NM_000051.4(ATM):c.72+20C>G rs1555053997
NM_000051.4(ATM):c.72+5_72+6delinsCTT rs1555053982
NM_000051.4(ATM):c.72+6A>G rs1057520800
NM_000051.4(ATM):c.73-14C>A rs766284348
NM_000051.4(ATM):c.73-19A>G rs1555054028
NM_000051.4(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.4(ATM):c.843A>G (p.Glu281=) rs1057523419
NM_000051.4(ATM):c.901+14del rs1064795038
NM_000051.4(ATM):c.902-10T>C rs2135264378
NM_000051.4(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.4(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.4(ATM):c.975T>C (p.His325=) rs746825207
NM_000051.4(ATM):c.990A>G (p.Gly330=) rs1555068447

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