ClinVar Miner

List of variants in gene ATM reported as uncertain significance by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 424
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.2927T>C (p.Val976Ala) rs146145357 0.00014
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg) rs146017595 0.00014
NM_000051.4(ATM):c.131A>G (p.Asp44Gly) rs150143957 0.00013
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly) rs145513717 0.00013
NM_000051.4(ATM):c.3628A>G (p.Met1210Val) rs138212452 0.00012
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg) rs145667735 0.00012
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe) rs377595814 0.00012
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00011
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser) rs375754332 0.00010
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr) rs587782239 0.00010
NM_000051.4(ATM):c.133C>T (p.Arg45Trp) rs3218684 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln) rs587782298 0.00008
NM_000051.4(ATM):c.4329C>A (p.His1443Gln) rs377065665 0.00008
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp) rs147515380 0.00007
NM_000051.4(ATM):c.290T>C (p.Ile97Thr) rs786203011 0.00007
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala) rs587778075 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000051.4(ATM):c.902G>A (p.Gly301Asp) rs202208861 0.00007
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly) rs148705269 0.00006
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00006
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile) rs375190373 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu) rs587782397 0.00005
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.659C>T (p.Ala220Val) rs145355104 0.00005
NM_000051.4(ATM):c.716T>C (p.Phe239Ser) rs143198946 0.00005
NM_000051.4(ATM):c.1837G>T (p.Val613Leu) rs200124136 0.00004
NM_000051.4(ATM):c.202A>G (p.Ile68Val) rs35389822 0.00004
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe) rs587781296 0.00004
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile) rs147122522 0.00004
NM_000051.4(ATM):c.2836A>G (p.Met946Val) rs587781992 0.00004
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu) rs747079458 0.00004
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr) rs370282831 0.00004
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile) rs576884305 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.4466G>A (p.Arg1489His) rs201594549 0.00004
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met) rs587781712 0.00004
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe) rs370240037 0.00003
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys) rs377597949 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000051.4(ATM):c.1943T>C (p.Val648Ala) rs141175037 0.00003
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro) rs768874297 0.00003
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe) rs730881345 0.00003
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys) rs878853492 0.00003
NM_000051.4(ATM):c.2354G>A (p.Arg785His) rs587782128 0.00003
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln) rs587782255 0.00003
NM_000051.4(ATM):c.2449G>C (p.Asp817His) rs587778067 0.00003
NM_000051.4(ATM):c.2519A>T (p.Asp840Val) rs786202605 0.00003
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr) rs778123895 0.00003
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly) rs761251711 0.00003
NM_000051.4(ATM):c.2942G>A (p.Arg981His) rs755896387 0.00003
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn) rs372966951 0.00003
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln) rs377349886 0.00003
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.379A>T (p.Thr127Ser) rs587781741 0.00003
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr) rs769980220 0.00003
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly) rs730881369 0.00003
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr) rs753269143 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser) rs587779850 0.00003
NM_000051.4(ATM):c.590G>A (p.Gly197Glu) rs753806542 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.668A>G (p.Glu223Gly) rs776227830 0.00003
NM_000051.4(ATM):c.1271C>A (p.Pro424His) rs147472613 0.00002
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln) rs760676955 0.00002
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly) rs876659425 0.00002
NM_000051.4(ATM):c.175G>T (p.Ala59Ser) rs752527112 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala) rs544123518 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr) rs587782163 0.00002
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val) rs746133264 0.00002
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe) rs876660498 0.00002
NM_000051.4(ATM):c.38G>A (p.Arg13His) rs778201041 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu) rs750771205 0.00002
NM_000051.4(ATM):c.425G>A (p.Ser142Asn) rs755618506 0.00002
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr) rs544891616 0.00002
NM_000051.4(ATM):c.4921G>C (p.Asp1641His) rs587782896 0.00002
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys) rs1341457041 0.00002
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly) rs746945284 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys) rs730881375 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.95G>A (p.Arg32His) rs368161489 0.00002
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu) rs199869975 0.00001
NM_000051.4(ATM):c.1235+3A>G rs1417190414 0.00001
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro) rs376196220 0.00001
NM_000051.4(ATM):c.127C>G (p.Leu43Val) rs772591447 0.00001
NM_000051.4(ATM):c.134G>A (p.Arg45Gln) rs762382111 0.00001
NM_000051.4(ATM):c.1352G>A (p.Arg451His) rs554805703 0.00001
NM_000051.4(ATM):c.1363G>A (p.Val455Met) rs368879876 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe) rs776412334 0.00001
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp) rs786202233 0.00001
NM_000051.4(ATM):c.1634C>T (p.Ala545Val) rs878853485 0.00001
NM_000051.4(ATM):c.1648A>G (p.Ile550Val) rs202144949 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln) rs876659283 0.00001
NM_000051.4(ATM):c.1838T>G (p.Val613Gly) rs762018538 0.00001
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr) rs770377706 0.00001
NM_000051.4(ATM):c.1870A>G (p.Met624Val) rs863224557 0.00001
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile) rs766757573 0.00001
NM_000051.4(ATM):c.1907A>G (p.His636Arg) rs1333990758 0.00001
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser) rs766259936 0.00001
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys) rs528165789 0.00001
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu) rs1060501691 0.00001
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg) rs772393149 0.00001
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys) rs769338089 0.00001
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys) rs765965513 0.00001
NM_000051.4(ATM):c.2168T>C (p.Val723Ala) rs745399310 0.00001
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys) rs3205809 0.00001
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg) rs587779819 0.00001
NM_000051.4(ATM):c.229A>G (p.Ile77Val) rs1064796032 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys) rs587778065 0.00001
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser) rs764538548 0.00001
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu) rs587781583 0.00001
NM_000051.4(ATM):c.241A>G (p.Asn81Asp) rs758962678 0.00001
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu) rs201909756 0.00001
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg) rs952566855 0.00001
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys) rs1060501648 0.00001
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg) rs372230498 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2501A>T (p.Glu834Val) rs730881349 0.00001
NM_000051.4(ATM):c.250G>T (p.Ala84Ser) rs1382256509 0.00001
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn) rs587779825 0.00001
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu) rs786202977 0.00001
NM_000051.4(ATM):c.2698A>G (p.Met900Val) rs138468963 0.00001
NM_000051.4(ATM):c.2786T>C (p.Met929Thr) rs745737218 0.00001
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys) rs56087610 0.00001
NM_000051.4(ATM):c.280A>G (p.Met94Val) rs864622758 0.00001
NM_000051.4(ATM):c.2838+4A>G rs876659907 0.00001
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe) rs538105098 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 0.00001
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe) rs587779831 0.00001
NM_000051.4(ATM):c.3077+5G>A rs777003996 0.00001
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val) rs761590782 0.00001
NM_000051.4(ATM):c.3190A>G (p.Met1064Val) rs79431304 0.00001
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu) rs762810180 0.00001
NM_000051.4(ATM):c.322G>A (p.Ala108Thr) rs730881370 0.00001
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu) rs971770683 0.00001
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu) rs149911447 0.00001
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys) rs201780199 0.00001
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser) rs730881358 0.00001
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser) rs199883473 0.00001
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr) rs147112946 0.00001
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met) rs777705500 0.00001
NM_000051.4(ATM):c.337C>T (p.Pro113Ser) rs1060501678 0.00001
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr) rs372766122 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro) rs183532834 0.00001
NM_000051.4(ATM):c.373A>G (p.Met125Val) rs761137313 0.00001
NM_000051.4(ATM):c.3747-16A>G rs1555093241 0.00001
NM_000051.4(ATM):c.37C>T (p.Arg13Cys) rs141586345 0.00001
NM_000051.4(ATM):c.3802G>A (p.Val1268Met) rs863224564 0.00001
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn) rs730881365 0.00001
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys) rs183263185 0.00001
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe) rs587778074 0.00001
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys) rs1424433891 0.00001
NM_000051.4(ATM):c.400G>A (p.Gly134Ser) rs2234998 0.00001
NM_000051.4(ATM):c.401G>A (p.Gly134Asp) rs771166271 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4055A>G (p.His1352Arg) rs925124248 0.00001
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn) rs786203761 0.00001
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro) rs1060501622 0.00001
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg) rs587782126 0.00001
NM_000051.4(ATM):c.439A>G (p.Lys147Glu) rs587782509 0.00001
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys) rs754181173 0.00001
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu) rs587781944 0.00001
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu) rs141329176 0.00001
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys) rs779718362 0.00001
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu) rs537377433 0.00001
NM_000051.4(ATM):c.475A>G (p.Ile159Val) rs1565357315 0.00001
NM_000051.4(ATM):c.478T>C (p.Ser160Pro) rs761170769 0.00001
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln) rs765759912 0.00001
NM_000051.4(ATM):c.4909+4C>T rs587782125 0.00001
NM_000051.4(ATM):c.4910-5T>C rs1309478967 0.00001
NM_000051.4(ATM):c.496+3A>G rs876658311 0.00001
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val) rs778632065 0.00001
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala) rs1457261046 0.00001
NM_000051.4(ATM):c.5005+1G>T rs1057517427 0.00001
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu) rs587782153 0.00001
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val) rs145453814 0.00001
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn) rs748900588 0.00001
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr) rs773546064 0.00001
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe) rs764784077 0.00001
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg) rs138710254 0.00001
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln) rs587782236 0.00001
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile) rs143577586 0.00001
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr) rs377289524 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.712A>G (p.Ile238Val) rs754275014 0.00001
NM_000051.4(ATM):c.76G>C (p.Glu26Gln) rs730881361 0.00001
NM_000051.4(ATM):c.78A>T (p.Glu26Asp) rs786202953 0.00001
NM_000051.4(ATM):c.811C>A (p.Leu271Ile) rs730881339 0.00001
NM_000051.4(ATM):c.884C>A (p.Ala295Asp) rs1044092081 0.00001
NM_000051.4(ATM):c.958G>A (p.Val320Met) rs1060501655 0.00001
NM_000051.4(ATM):c.977T>C (p.Ile326Thr) rs768720856 0.00001
NM_000051.4(ATM):c.1058G>T (p.Cys353Phe)
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup) rs1064792998
NM_000051.4(ATM):c.1228G>A (p.Val410Met) rs863224555
NM_000051.4(ATM):c.1235+4A>G rs786203147
NM_000051.4(ATM):c.1268A>G (p.Tyr423Cys) rs1064796159
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr) rs769214234
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln) rs546621356
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu) rs1163918420
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala) rs1324524747
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys) rs781578507
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu) rs876660485
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile) rs876659240
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn) rs1555070941
NM_000051.4(ATM):c.1468A>G (p.Ile490Val) rs761850075
NM_000051.4(ATM):c.1485A>G (p.Ile495Met) rs1565383283
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln) rs1555071060
NM_000051.4(ATM):c.157A>C (p.Lys53Gln) rs876659078
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr) rs1555071682
NM_000051.4(ATM):c.1651G>T (p.Val551Phe) rs1555071742
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys) rs200381392
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp) rs1555072017
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn) rs776911505
NM_000051.4(ATM):c.1800C>T (p.His600=) rs750715942
NM_000051.4(ATM):c.1801A>C (p.Ser601Arg)
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe) rs747242300
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg) rs2080230578
NM_000051.4(ATM):c.1859G>A (p.Cys620Tyr)
NM_000051.4(ATM):c.1899-17A>G rs2135365023
NM_000051.4(ATM):c.1899-8T>A
NM_000051.4(ATM):c.1901A>T (p.Glu634Val) rs1555073069
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del) rs876659575
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del) rs1555073166
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn) rs1343017824
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys) rs1060501585
NM_000051.4(ATM):c.2048A>T (p.His683Leu)
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln) rs1060501539
NM_000051.4(ATM):c.2101C>T (p.Leu701Phe)
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln) rs768874297
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys) rs565622131
NM_000051.4(ATM):c.2242A>G (p.Lys748Glu)
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr) rs876660916
NM_000051.4(ATM):c.2270G>T (p.Gly757Val) rs375091571
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn) rs786202270
NM_000051.4(ATM):c.2377-7A>G rs2080691600
NM_000051.4(ATM):c.2383C>A (p.Pro795Thr)
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser) rs1060501651
NM_000051.4(ATM):c.2386A>C (p.Asn796His) rs201793499
NM_000051.4(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu) rs587781956
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu) rs199875915
NM_000051.4(ATM):c.2521G>A (p.Asp841Asn)
NM_000051.4(ATM):c.2530G>A (p.Gly844Arg)
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu) rs587781808
NM_000051.4(ATM):c.2545G>T (p.Val849Leu) rs1591587875
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu) rs1064793513
NM_000051.4(ATM):c.2606C>T (p.Ala869Val) rs145513717
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg) rs1555082348
NM_000051.4(ATM):c.2681A>T (p.Asp894Val) rs113482790
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu) rs2135524412
NM_000051.4(ATM):c.2722G>A (p.Val908Ile) rs1190648236
NM_000051.4(ATM):c.2725A>G (p.Thr909Ala)
NM_000051.4(ATM):c.2731G>T (p.Ala911Ser) rs1591594169
NM_000051.4(ATM):c.274A>G (p.Lys92Glu) rs756969590
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu) rs587782298
NM_000051.4(ATM):c.2773A>G (p.Arg925Gly)
NM_000051.4(ATM):c.2791A>G (p.Ile931Val) rs1308253602
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile) rs762078586
NM_000051.4(ATM):c.2858A>G (p.Glu953Gly)
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe) rs876660628
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe) rs1166904824
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu) rs2135552016
NM_000051.4(ATM):c.2978A>G (p.His993Arg) rs878853498
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln) rs1064794039
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile) rs186626274
NM_000051.4(ATM):c.305A>T (p.Lys102Ile) rs1555055293
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys) rs876660869
NM_000051.4(ATM):c.3080A>G (p.His1027Arg) rs786204217
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg) rs1555085890
NM_000051.4(ATM):c.323C>G (p.Ala108Gly) rs766951228
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala) rs1284116426
NM_000051.4(ATM):c.3257G>A (p.Arg1086His) rs769857066
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr) rs1460583900
NM_000051.4(ATM):c.3284+4A>G rs1591610423
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala) rs1555090118
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val) rs1479434069
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser) rs876658963
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe) rs752339681
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly) rs1591632541
NM_000051.4(ATM):c.3401T>C (p.Met1134Thr)
NM_000051.4(ATM):c.3402+17T>G
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys) rs786203048
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser) rs2135667225
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val) rs2082210652
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser) rs587782470
NM_000051.4(ATM):c.3536C>A (p.Ser1179Tyr)
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe) rs370602633
NM_000051.4(ATM):c.359T>C (p.Leu120Pro) rs1555059081
NM_000051.4(ATM):c.3605G>C (p.Gly1202Ala) rs1555092285
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe) rs1555092528
NM_000051.4(ATM):c.3746+5G>A rs876658419
NM_000051.4(ATM):c.3772C>A (p.His1258Asn) rs587782741
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile) rs786203618
NM_000051.4(ATM):c.3841A>C (p.Ser1281Arg)
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg) rs863224565
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile) rs876660568
NM_000051.4(ATM):c.394T>C (p.Ser132Pro) rs786203851
NM_000051.4(ATM):c.3952G>C (p.Val1318Leu)
NM_000051.4(ATM):c.395C>G (p.Ser132Cys) rs750969764
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe) rs144535256
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe) rs1064794874
NM_000051.4(ATM):c.3993G>C (p.Gln1331His) rs863224566
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu) rs1565452452
NM_000051.4(ATM):c.4088C>T (p.Thr1363Ile)
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr) rs876660576
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly) rs1555096908
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser) rs786203761
NM_000051.4(ATM):c.4207A>G (p.Ser1403Gly) rs768726324
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del) rs876659842
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val) rs562445932
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr) rs876659764
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser) rs587782442
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val) rs774886013
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr) rs1555097538
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr) rs587782126
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg) rs1451928082
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser) rs1060501675
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln) rs749770110
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro) rs749770110
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly) rs730881392
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del) rs786202338
NM_000051.4(ATM):c.445A>T (p.Ile149Phe) rs1565357194
NM_000051.4(ATM):c.4475C>G (p.Ser1492Cys)
NM_000051.4(ATM):c.4486G>C (p.Asp1496His)
NM_000051.4(ATM):c.4517T>C (p.Val1506Ala) rs1555099878
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu) rs969120822
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val) rs1555099997
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys) rs1365089723
NM_000051.4(ATM):c.4611+3A>G rs2082874444
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val) rs537377433
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro) rs1060501524
NM_000051.4(ATM):c.467G>C (p.Trp156Ser) rs876658159
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn) rs876659069
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser) rs777812804
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His) rs994121421
NM_000051.4(ATM):c.4858C>G (p.Gln1620Glu)
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu) rs1060501693
NM_000051.4(ATM):c.4909+5T>C rs2083048367
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly) rs763457172
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile) rs1591692969
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser) rs1346404008
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.5005+86T>A
NM_000051.4(ATM):c.5006-12T>G rs2083315314
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp) rs2083319473
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val) rs766053182
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser) rs772376652
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser) rs183531638
NM_000051.4(ATM):c.5169AGA[1] (p.Glu1724del)
NM_000051.4(ATM):c.5178-3del rs1555105575
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile) rs1064793458
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr) rs1591708460
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe) rs1591708658
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg) rs786203369
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys) rs864622125
NM_000051.4(ATM):c.538C>A (p.Gln180Lys) rs730881333
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly) rs2083501896
NM_000051.4(ATM):c.5405A>T (p.His1802Leu) rs878853521
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys) rs1555106553
NM_000051.4(ATM):c.5525T>C (p.Leu1842Pro)
NM_000051.4(ATM):c.5531A>G (p.Tyr1844Cys) rs876658907
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly) rs1555107329
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys) rs754562056
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser) rs1565481878
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.565A>G (p.Arg189Gly) rs2079701086
NM_000051.4(ATM):c.5683C>A (p.His1895Asn) rs766901049
NM_000051.4(ATM):c.578C>T (p.Ala193Val) rs1064793928
NM_000051.4(ATM):c.616A>C (p.Asn206His) rs587781829
NM_000051.4(ATM):c.622A>C (p.Lys208Gln) rs1292617227
NM_000051.4(ATM):c.635T>C (p.Phe212Ser) rs1591500544
NM_000051.4(ATM):c.644A>G (p.Lys215Arg) rs755074633
NM_000051.4(ATM):c.646G>T (p.Ala216Ser) rs2235002
NM_000051.4(ATM):c.661A>G (p.Arg221Gly) rs2135227474
NM_000051.4(ATM):c.663-194A>G
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.703G>A (p.Ala235Thr) rs76379269
NM_000051.4(ATM):c.719T>G (p.Leu240Arg) rs876658753
NM_000051.4(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.4(ATM):c.743G>A (p.Arg248Gln) rs769166447
NM_000051.4(ATM):c.769G>A (p.Glu257Lys)
NM_000051.4(ATM):c.778C>A (p.Pro260Thr) rs863224581
NM_000051.4(ATM):c.812T>G (p.Leu271Arg) rs1314281091
NM_000051.4(ATM):c.815A>G (p.Asn272Ser) rs1555067189
NM_000051.4(ATM):c.821C>G (p.Ser274Cys) rs1591504377
NM_000051.4(ATM):c.866T>A (p.Ile289Asn)
NM_000051.4(ATM):c.894A>C (p.Gln298His) rs1555067327
NM_000051.4(ATM):c.921A>T (p.Lys307Asn) rs1555068322
NM_000051.4(ATM):c.936A>C (p.Leu312Phe) rs587782257
NM_000051.4(ATM):c.95G>T (p.Arg32Leu) rs368161489
NM_000051.4(ATM):c.976A>G (p.Ile326Val) rs1555068422
NM_000051.4(ATM):c.982A>G (p.Ser328Gly) rs1555068433
NM_000051.4(ATM):c.984_986del (p.Ser328del) rs876659593
NM_000051.4(ATM):c.986G>A (p.Arg329Lys) rs776938735
NM_000051.4(ATM):c.989G>A (p.Gly330Glu) rs762179829

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