ClinVar Miner

List of variants in gene ATM reported as likely benign for DNA repair disease

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 455
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.1014T>C (p.Asn338=) rs1555068510
NM_000051.3(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1020C>T (p.Ala340=) rs546927781
NM_000051.3(ATM):c.103C>A (p.Arg35=) rs55861249
NM_000051.3(ATM):c.105A>C (p.Arg35=) rs1060504270
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1068T>C (p.Val356=) rs1462038794
NM_000051.3(ATM):c.1116T>C (p.Thr372=) rs371985921
NM_000051.3(ATM):c.1119A>T (p.Thr373=) rs754889105
NM_000051.3(ATM):c.1149T>C (p.Pro383=) rs786201409
NM_000051.3(ATM):c.1161G>A (p.Lys387=) rs786202369
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1197C>T (p.His399=) rs786201131
NM_000051.3(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.3(ATM):c.1227T>C (p.Leu409=) rs1060504273
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1230G>A (p.Val410=) rs1555069869
NM_000051.3(ATM):c.1235+5A>T rs1064793679
NM_000051.3(ATM):c.1236-3delT rs34325032
NM_000051.3(ATM):c.1236-6_1236-5insC rs878853483
NM_000051.3(ATM):c.1236-8T>C rs756160331
NM_000051.3(ATM):c.1236-9_1236-8insG rs863224290
NM_000051.3(ATM):c.1242G>A (p.Gln414=) rs786203667
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1263A>G (p.Ser421=) rs1060504285
NM_000051.3(ATM):c.1303T>C (p.Leu435=) rs748469311
NM_000051.3(ATM):c.1329A>G (p.Leu443=) rs201460863
NM_000051.3(ATM):c.1332C>A (p.Pro444=) rs763361384
NM_000051.3(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.3(ATM):c.1368A>G (p.Leu456=) rs750579940
NM_000051.3(ATM):c.138T>C (p.His46=) rs770834907
NM_000051.3(ATM):c.1392G>A (p.Leu464=) rs760191806
NM_000051.3(ATM):c.1410A>C (p.Ser470=) rs939650649
NM_000051.3(ATM):c.1428A>G (p.Gln476=) rs745509434
NM_000051.3(ATM):c.1431G>A (p.Lys477=) rs1555070941
NM_000051.3(ATM):c.1455T>C (p.Asn485=) rs1385019623
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1473C>G (p.Thr491=) rs764937436
NM_000051.3(ATM):c.1491T>A (p.Ser497=) rs1555071057
NM_000051.3(ATM):c.1494G>A (p.Glu498=) rs763108858
NM_000051.3(ATM):c.1515T>C (p.Phe505=) rs1057520521
NM_000051.3(ATM):c.1518C>T (p.Gly506=) rs864622528
NM_000051.3(ATM):c.1536T>A (p.Ile512=) rs1060504296
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1542T>C (p.Gly514=) rs572567674
NM_000051.3(ATM):c.1584T>C (p.Thr528=) rs864622408
NM_000051.3(ATM):c.1587G>A (p.Gly529=) rs1060504276
NM_000051.3(ATM):c.1596C>T (p.Cys532=) rs564050785
NM_000051.3(ATM):c.159A>G (p.Lys53=) rs1060504281
NM_000051.3(ATM):c.1605A>G (p.Ser535=) rs1060504290
NM_000051.3(ATM):c.1617A>G (p.Val539=) rs1060504300
NM_000051.3(ATM):c.1629T>G (p.Thr543=) rs760285673
NM_000051.3(ATM):c.162T>C (p.Tyr54=) rs3218690
NM_000051.3(ATM):c.1636C>G (p.Leu546Val) rs2227924
NM_000051.3(ATM):c.1641C>A (p.Thr547=) rs864622141
NM_000051.3(ATM):c.1656A>G (p.Pro552=) rs1060504275
NM_000051.3(ATM):c.1662G>A (p.Thr554=) rs764646531
NM_000051.3(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.3(ATM):c.1722A>G (p.Glu574=) rs372334891
NM_000051.3(ATM):c.1740C>T (p.Leu580=) rs1060504269
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1746C>T (p.Phe582=) rs145629926
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1779A>G (p.Thr593=) rs876660493
NM_000051.3(ATM):c.1794T>C (p.Ile598=) rs786201830
NM_000051.3(ATM):c.1802+7T>G rs1057521381
NM_000051.3(ATM):c.1803-10T>C rs1555072423
NM_000051.3(ATM):c.180T>G (p.Val60=) rs786201375
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1827G>A (p.Glu609=) rs1555072460
NM_000051.3(ATM):c.185+7T>C rs143404880
NM_000051.3(ATM):c.185+8A>G rs753891198
NM_000051.3(ATM):c.1881C>T (p.Phe627=) rs1555072574
NM_000051.3(ATM):c.1888G>A (p.Val630Met) rs148191382
NM_000051.3(ATM):c.1893A>G (p.Pro631=) rs764702196
NM_000051.3(ATM):c.1898+9T>C rs1057520836
NM_000051.3(ATM):c.1899-10T>G rs763685190
NM_000051.3(ATM):c.1899-7C>T rs1060501584
NM_000051.3(ATM):c.1911A>G (p.Gln637=) rs764790965
NM_000051.3(ATM):c.1929T>G (p.Leu643=) rs876659911
NM_000051.3(ATM):c.192A>G (p.Leu64=) rs587780616
NM_000051.3(ATM):c.1944A>C (p.Val648=) rs1555073161
NM_000051.3(ATM):c.1951C>T (p.Leu651=) rs1057521751
NM_000051.3(ATM):c.1953A>G (p.Leu651=) rs730881283
NM_000051.3(ATM):c.1986T>C (p.Phe662=) rs1800055
NM_000051.3(ATM):c.198A>G (p.Lys66=) rs540920248
NM_000051.3(ATM):c.1995T>C (p.Ile665=) rs1555073271
NM_000051.3(ATM):c.1998G>A (p.Val666=) rs748380150
NM_000051.3(ATM):c.2019G>A (p.Lys673=) rs786203021
NM_000051.3(ATM):c.2034T>C (p.Ile678=) rs1013513956
NM_000051.3(ATM):c.2040C>T (p.Phe680=) rs587780855
NM_000051.3(ATM):c.2058C>G (p.Leu686=) rs761397203
NM_000051.3(ATM):c.2082T>C (p.Leu694=) rs369642243
NM_000051.3(ATM):c.2085G>A (p.Leu695=) rs786202229
NM_000051.3(ATM):c.210A>G (p.Lys70=) rs1064793030
NM_000051.3(ATM):c.2115C>T (p.Tyr705=) rs876659149
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2125-48T>C
NM_000051.3(ATM):c.2125-7_2125-3delCTTTA rs1060504272
NM_000051.3(ATM):c.2148C>G (p.Val716=) rs1800701
NM_000051.3(ATM):c.2169G>T (p.Val723=) rs878853491
NM_000051.3(ATM):c.2175C>T (p.Val725=) rs140110298
NM_000051.3(ATM):c.2181C>T (p.Gly727=) rs876658836
NM_000051.3(ATM):c.2184C>T (p.Cys728=) rs1555074933
NM_000051.3(ATM):c.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2190T>C (p.Cys730=) rs876659949
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2208T>C (p.Ala736=) rs761874856
NM_000051.3(ATM):c.2208T>G (p.Ala736=) rs761874856
NM_000051.3(ATM):c.2220A>G (p.Ala740=) rs56353517
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2250+7G>A rs752009031
NM_000051.3(ATM):c.2251-7A>G rs879254103
NM_000051.3(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.3(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2322T>C (p.Gly774=) rs769575297
NM_000051.3(ATM):c.2334T>C (p.Asn778=) rs1555075758
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2373C>T (p.Thr791=) rs878853494
NM_000051.3(ATM):c.2376+17_2376+19delCTT rs757318914
NM_000051.3(ATM):c.2377-5T>C rs754206007
NM_000051.3(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.3(ATM):c.2397A>G (p.Ala799=) rs1060504279
NM_000051.3(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.3(ATM):c.2419T>C (p.Leu807=) rs1555076667
NM_000051.3(ATM):c.2430G>A (p.Lys810=) rs1555076689
NM_000051.3(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.3(ATM):c.2466+8T>A rs765619483
NM_000051.3(ATM):c.2466+8T>C rs765619483
NM_000051.3(ATM):c.2467-4G>T rs1555082048
NM_000051.3(ATM):c.2467-7C>T rs768850329
NM_000051.3(ATM):c.246A>G (p.Val82=) rs757944864
NM_000051.3(ATM):c.2487A>G (p.Pro829=) rs1330586139
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2499A>C (p.Gly833=) rs1060504263
NM_000051.3(ATM):c.2538A>C (p.Leu846=) rs567045160
NM_000051.3(ATM):c.2547G>A (p.Val849=) rs1060504262
NM_000051.3(ATM):c.2550G>A (p.Glu850=) rs1399925352
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2589T>C (p.Asp863=) rs1057520227
NM_000051.3(ATM):c.2610C>T (p.Asn870=) rs587780618
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2619A>G (p.Gly873=) rs777979257
NM_000051.3(ATM):c.2638+7A>G rs1555082379
NM_000051.3(ATM):c.2638+8C>T rs776116433
NM_000051.3(ATM):c.2638+9A>G rs761592414
NM_000051.3(ATM):c.2639-7T>C rs912886321
NM_000051.3(ATM):c.2679A>G (p.Gln893=) rs139316519
NM_000051.3(ATM):c.2685A>G (p.Leu895=) rs3218687
NM_000051.3(ATM):c.2724A>T (p.Val908=) rs1555083247
NM_000051.3(ATM):c.2736G>A (p.Gln912=) rs757305928
NM_000051.3(ATM):c.2751C>T (p.Ser917=) rs876659611
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.279G>A (p.Lys93=) rs368196317
NM_000051.3(ATM):c.2805G>A (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2805G>T (p.Thr935=) rs55934812
NM_000051.3(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.3(ATM):c.2838+8dupA rs1364656453
NM_000051.3(ATM):c.2838+9C>A rs370160823
NM_000051.3(ATM):c.2838+9C>G rs370160823
NM_000051.3(ATM):c.2838+9C>T rs370160823
NM_000051.3(ATM):c.2839-18_2839-17insT rs730881287
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-5C>A rs876660205
NM_000051.3(ATM):c.2859G>A (p.Glu953=) rs569489729
NM_000051.3(ATM):c.2862T>C (p.Leu954=) rs1426256662
NM_000051.3(ATM):c.2871A>G (p.Glu957=) rs863224291
NM_000051.3(ATM):c.2901T>G (p.Leu967=) rs778731866
NM_000051.3(ATM):c.2908C>T (p.Leu970=) rs1060504260
NM_000051.3(ATM):c.2919A>G (p.Leu973=) rs587779829
NM_000051.3(ATM):c.2921+10T>G rs1060504278
NM_000051.3(ATM):c.2922-7dup rs932219783
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2925T>C (p.Asn975=) rs765848319
NM_000051.3(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.3(ATM):c.2934T>G (p.Ser978=) rs368678134
NM_000051.3(ATM):c.2949C>T (p.Asp983=) rs1555085022
NM_000051.3(ATM):c.2955T>C (p.Asp985=) rs1555085034
NM_000051.3(ATM):c.2958T>G (p.Val986=) rs745971584
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.2982C>T (p.Val994=) rs200541844
NM_000051.3(ATM):c.2985T>A (p.Leu995=) rs1555085087
NM_000051.3(ATM):c.3003A>C (p.Leu1001=) rs765969190
NM_000051.3(ATM):c.3003A>G (p.Leu1001=) rs765969190
NM_000051.3(ATM):c.300G>A (p.Leu100=) rs878853499
NM_000051.3(ATM):c.3024T>G (p.Ser1008=) rs1060504274
NM_000051.3(ATM):c.3027G>A (p.Glu1009=) rs1060504299
NM_000051.3(ATM):c.3030C>T (p.Asn1010=) rs876660913
NM_000051.3(ATM):c.3042T>C (p.Ala1014=) rs1555085205
NM_000051.3(ATM):c.3048A>G (p.Gly1016=) rs786203820
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3077+8C>G rs752601608
NM_000051.3(ATM):c.3081T>C (p.His1027=) rs864622587
NM_000051.3(ATM):c.3087A>C (p.Thr1029=) rs1555085787
NM_000051.3(ATM):c.3096G>A (p.Arg1032=) rs1555085805
NM_000051.3(ATM):c.3102T>C (p.Tyr1034=) rs780240314
NM_000051.3(ATM):c.3108C>T (p.Phe1036=) rs867514913
NM_000051.3(ATM):c.3115A>C (p.Arg1039=) rs1060504309
NM_000051.3(ATM):c.3117A>G (p.Arg1039=) rs55784207
NM_000051.3(ATM):c.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.312C>T (p.Phe104=) rs1060504310
NM_000051.3(ATM):c.3135C>T (p.Cys1045=) rs773577455
NM_000051.3(ATM):c.3138T>G (p.Leu1046=) rs3092858
NM_000051.3(ATM):c.3153+7_3153+8insA rs878853500
NM_000051.3(ATM):c.3153+9T>C rs770464168
NM_000051.3(ATM):c.3154-4G>A rs199543313
NM_000051.3(ATM):c.3154-4G>T rs199543313
NM_000051.3(ATM):c.3154-5C>T rs55719759
NM_000051.3(ATM):c.3204T>C (p.Phe1068=) rs1555086059
NM_000051.3(ATM):c.3207T>C (p.Pro1069=) rs878853502
NM_000051.3(ATM):c.3216A>G (p.Glu1072=) rs373699194
NM_000051.3(ATM):c.3219A>G (p.Val1073=) rs752849892
NM_000051.3(ATM):c.3225A>G (p.Thr1075=) rs1555086107
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.3273G>A (p.Glu1091=) rs762860946
NM_000051.3(ATM):c.3284+7G>A rs371629629
NM_000051.3(ATM):c.3284+7G>C rs371629629
NM_000051.3(ATM):c.3285-9delT rs1799757
NM_000051.3(ATM):c.3300G>A (p.Thr1100=) rs587780621
NM_000051.3(ATM):c.3303G>A (p.Lys1101=) rs925487325
NM_000051.3(ATM):c.331+7G>A rs1184757004
NM_000051.3(ATM):c.331+8A>G rs878853503
NM_000051.3(ATM):c.3324G>C (p.Leu1108=) rs762269034
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3354A>G (p.Thr1118=) rs377316982
NM_000051.3(ATM):c.3369A>G (p.Ala1123=) rs587780543
NM_000051.3(ATM):c.3378A>G (p.Lys1126=) rs149182949
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.339T>C (p.Pro113=) rs1555059023
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3403-16_3403-15insA rs569564716
NM_000051.3(ATM):c.3411T>C (p.Ser1137=) rs369518512
NM_000051.3(ATM):c.342G>A (p.Arg114=) rs1555059036
NM_000051.3(ATM):c.3468G>A (p.Thr1156=) rs148358896
NM_000051.3(ATM):c.3471G>A (p.Leu1157=) rs878853504
NM_000051.3(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.3(ATM):c.3489C>T (p.Ser1163=) rs864622097
NM_000051.3(ATM):c.3501C>T (p.Ile1167=) rs1555091279
NM_000051.3(ATM):c.3504C>T (p.Cys1168=) rs876658368
NM_000051.3(ATM):c.3528G>T (p.Leu1176=) rs748335454
NM_000051.3(ATM):c.3549T>C (p.Asn1183=) rs767377764
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3588A>G (p.Lys1196=) rs376524625
NM_000051.3(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.3(ATM):c.3627T>C (p.Phe1209=) rs762605020
NM_000051.3(ATM):c.3639T>C (p.His1213=) rs142766756
NM_000051.3(ATM):c.3660A>G (p.Glu1220=) rs876660835
NM_000051.3(ATM):c.366T>C (p.Asn122=) rs1178025248
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3723C>T (p.Tyr1241=) rs772331389
NM_000051.3(ATM):c.372C>A (p.Ile124=) rs773495195
NM_000051.3(ATM):c.372C>T (p.Ile124=) rs773495195
NM_000051.3(ATM):c.3744T>C (p.Tyr1248=) rs1555092589
NM_000051.3(ATM):c.3747-10C>G rs775274473
NM_000051.3(ATM):c.3747-7T>C rs1057523136
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.381A>G (p.Thr127=) rs762582522
NM_000051.3(ATM):c.384G>C (p.Val128=) rs1555059177
NM_000051.3(ATM):c.3909C>T (p.Thr1303=) rs1555093618
NM_000051.3(ATM):c.3915C>T (p.Asp1305=) rs1429663437
NM_000051.3(ATM):c.3918T>C (p.Ser1306=) rs139632347
NM_000051.3(ATM):c.3919G>A (p.Gly1307Arg) rs568451087
NM_000051.3(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.3(ATM):c.3927A>G (p.Ala1309=) rs1555093665
NM_000051.3(ATM):c.3933A>G (p.Gln1311=) rs1060504304
NM_000051.3(ATM):c.3951G>A (p.Lys1317=) rs1485996895
NM_000051.3(ATM):c.3994-4G>C rs1060504259
NM_000051.3(ATM):c.3994-7C>T rs769346400
NM_000051.3(ATM):c.3994-9C>T rs767111803
NM_000051.3(ATM):c.4008C>T (p.Phe1336=) rs748055132
NM_000051.3(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.3(ATM):c.4020A>G (p.Leu1340=) rs1555095888
NM_000051.3(ATM):c.4050G>A (p.Thr1350=) rs770697446
NM_000051.3(ATM):c.4056T>C (p.His1352=) rs587780622
NM_000051.3(ATM):c.4071T>C (p.Ser1357=) rs767516955
NM_000051.3(ATM):c.4101C>T (p.Asp1367=) rs587780623
NM_000051.3(ATM):c.4110-4T>C rs777186156
NM_000051.3(ATM):c.4110-6T>C rs1060504277
NM_000051.3(ATM):c.4110-9C>T rs730881367
NM_000051.3(ATM):c.4114T>C (p.Leu1372=) rs762242838
NM_000051.3(ATM):c.411C>T (p.Tyr137=) rs756160533
NM_000051.3(ATM):c.4138C>T (p.His1380Tyr) rs3092856
NM_000051.3(ATM):c.4146A>G (p.Pro1382=) rs147738621
NM_000051.3(ATM):c.4149G>A (p.Ser1383=) rs749180334
NM_000051.3(ATM):c.4167A>G (p.Thr1389=) rs183214437
NM_000051.3(ATM):c.4173C>T (p.Ala1391=) rs1060504284
NM_000051.3(ATM):c.4179C>A (p.Ile1393=) rs775688446
NM_000051.3(ATM):c.4227C>T (p.Ser1409=) rs1555097018
NM_000051.3(ATM):c.4236+8T>C rs765636697
NM_000051.3(ATM):c.4237-8T>C rs750427647
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4263C>T (p.Ala1421=) rs1373073134
NM_000051.3(ATM):c.429C>T (p.Asn143=) rs1416280463
NM_000051.3(ATM):c.4323A>T (p.Ile1441=) rs587779839
NM_000051.3(ATM):c.4332G>A (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4332G>C (p.Leu1444=) rs753570046
NM_000051.3(ATM):c.4335T>C (p.Phe1445=) rs761225071
NM_000051.3(ATM):c.4365T>A (p.Ser1455Arg) rs527471560
NM_000051.3(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.3(ATM):c.4389T>C (p.Phe1463=) rs1555097753
NM_000051.3(ATM):c.4398A>G (p.Arg1466=) rs142728382
NM_000051.3(ATM):c.4401C>T (p.Asp1467=) rs876660356
NM_000051.3(ATM):c.4404T>C (p.Val1468=) rs1555097801
NM_000051.3(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.3(ATM):c.441A>G (p.Lys147=) rs1555059372
NM_000051.3(ATM):c.4422C>T (p.His1474=) rs1555097849
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4437-9C>T rs766003804
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4482T>C (p.Cys1494=) rs769071554
NM_000051.3(ATM):c.4491A>G (p.Leu1497=) rs878853511
NM_000051.3(ATM):c.4492T>C (p.Leu1498=) rs748949478
NM_000051.3(ATM):c.4515C>G (p.Ala1505=) rs540798997
NM_000051.3(ATM):c.4518G>A (p.Val1506=) rs1057524110
NM_000051.3(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.3(ATM):c.4575A>T (p.Ile1525=) rs781539071
NM_000051.3(ATM):c.4578C>T (p.Pro1526=) rs1800889
NM_000051.3(ATM):c.4611+9C>G rs760704159
NM_000051.3(ATM):c.4612-32_4612-30delCTT rs113149503
NM_000051.3(ATM):c.4612-8A>G rs1555100341
NM_000051.3(ATM):c.4615T>C (p.Leu1539=) rs976206782
NM_000051.3(ATM):c.4626G>A (p.Leu1542=) rs786202784
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4674G>A (p.Thr1558=) rs876658474
NM_000051.3(ATM):c.4677T>A (p.Ile1559=) rs759660081
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4731T>C (p.Thr1577=) rs145236132
NM_000051.3(ATM):c.4749C>T (p.Tyr1583=) rs1555100597
NM_000051.3(ATM):c.4761C>T (p.Pro1587=) rs769562370
NM_000051.3(ATM):c.4770C>T (p.Leu1590=) rs749475519
NM_000051.3(ATM):c.4776+10delA rs878853512
NM_000051.3(ATM):c.4776+23_4776+25delCTA rs770860526
NM_000051.3(ATM):c.4779A>G (p.Glu1593=) rs587778076
NM_000051.3(ATM):c.4818T>C (p.Leu1606=) rs772074468
NM_000051.3(ATM):c.4821A>G (p.Pro1607=) rs786203559
NM_000051.3(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.3(ATM):c.4869A>C (p.Leu1623=) rs767084038
NM_000051.3(ATM):c.4878T>C (p.Asp1626=) rs755687834
NM_000051.3(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.3(ATM):c.4909+9T>G rs1555101970
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910-8A>G rs1555103144
NM_000051.3(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.493T>C (p.Leu165=) rs878853514
NM_000051.3(ATM):c.4953G>A (p.Leu1651=) rs786201297
NM_000051.3(ATM):c.4965C>T (p.Ser1655=) rs1555103252
NM_000051.3(ATM):c.497-4T>A rs876659621
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
NM_000051.3(ATM):c.498A>G (p.Glu166=) rs587779842
NM_000051.3(ATM):c.5002C>T (p.Leu1668=) rs747317946
NM_000051.3(ATM):c.5005+14A>T rs374337879
NM_000051.3(ATM):c.5005+7_5005+8delTA rs587780626
NM_000051.3(ATM):c.5005+8A>G rs1204604787
NM_000051.3(ATM):c.5005+9C>T rs730881291
NM_000051.3(ATM):c.5010T>G (p.Ala1670=) rs1555104482
NM_000051.3(ATM):c.5023T>C (p.Leu1675=) rs876660275
NM_000051.3(ATM):c.5034G>C (p.Val1678=) rs1555104548
NM_000051.3(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.3(ATM):c.5055C>T (p.Thr1685=) rs587780551
NM_000051.3(ATM):c.5067A>G (p.Gln1689=) rs1555104621
NM_000051.3(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.3(ATM):c.507T>C (p.Ser169=) rs758619186
NM_000051.3(ATM):c.5082A>G (p.Ala1694=) rs778014234
NM_000051.3(ATM):c.510G>A (p.Val170=) rs375682557
NM_000051.3(ATM):c.5124T>G (p.Leu1708=) rs864622668
NM_000051.3(ATM):c.5145G>A (p.Leu1715=) rs786202765
NM_000051.3(ATM):c.5154G>A (p.Leu1718=) rs1555104785
NM_000051.3(ATM):c.5157T>C (p.Asn1719=) rs786203254
NM_000051.3(ATM):c.5175T>C (p.Asp1725=) rs1555104803
NM_000051.3(ATM):c.5178-11G>A rs200876654
NM_000051.3(ATM):c.5178-7T>C rs1555105564
NM_000051.3(ATM):c.5178-9T>G rs1555105562
NM_000051.3(ATM):c.5205C>G (p.Thr1735=) rs1060504283
NM_000051.3(ATM):c.5229A>G (p.Thr1743=) rs878853519
NM_000051.3(ATM):c.522C>G (p.Leu174=) rs780173724
NM_000051.3(ATM):c.5256T>C (p.Ile1752=) rs1555105718
NM_000051.3(ATM):c.5271A>G (p.Thr1757=) rs1555105759
NM_000051.3(ATM):c.5310A>G (p.Ser1770=) rs1060504282
NM_000051.3(ATM):c.5319+7T>A rs925428128
NM_000051.3(ATM):c.5319+8A>G rs375051697
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-6_5320-3delTTCT rs864622386
NM_000051.3(ATM):c.5320-7T>G rs863224292
NM_000051.3(ATM):c.534T>C (p.Pro178=) rs1060504293
NM_000051.3(ATM):c.534T>G (p.Pro178=) rs1060504293
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5355T>G (p.Pro1785=) rs1025083720
NM_000051.3(ATM):c.5382G>A (p.Leu1794=) rs188362115
NM_000051.3(ATM):c.5409C>T (p.Asp1803=) rs1555106462
NM_000051.3(ATM):c.5436T>G (p.Ala1812=) rs1555106502
NM_000051.3(ATM):c.5448T>C (p.Ser1816=) rs766455425
NM_000051.3(ATM):c.5476T>C (p.Leu1826=) rs1555106563
NM_000051.3(ATM):c.5496+7_5496+9delAGA rs878853523
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5497-9A>G rs878853524
NM_000051.3(ATM):c.5523A>C (p.Val1841=) rs1060504268
NM_000051.3(ATM):c.5529A>G (p.Pro1843=) rs750037588
NM_000051.3(ATM):c.5544T>C (p.Asp1848=) rs146568734
NM_000051.3(ATM):c.5550A>G (p.Leu1850=) rs35850088
NM_000051.3(ATM):c.5557G>A (p.Asp1853Asn) rs1801516
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5583G>A (p.Leu1861=) rs781383087
NM_000051.3(ATM):c.5589T>C (p.Ser1863=) rs786203902
NM_000051.3(ATM):c.5595T>C (p.His1865=) rs772261410
NM_000051.3(ATM):c.5623C>A (p.Arg1875=) rs376603775
NM_000051.3(ATM):c.5634G>A (p.Ser1878=) rs767070325
NM_000051.3(ATM):c.5640G>A (p.Thr1880=) rs757103582
NM_000051.3(ATM):c.5649C>T (p.Ser1883=) rs1057522721
NM_000051.3(ATM):c.5658T>C (p.Pro1886=) rs940182945
NM_000051.3(ATM):c.5675-4T>A rs56075338
NM_000051.3(ATM):c.5691C>T (p.Phe1897=) rs1555109057
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) rs370680798
NM_000051.3(ATM):c.5712A>G (p.Lys1904=) rs864622127
NM_000051.3(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.3(ATM):c.5718A>G (p.Gln1906=) rs863224293
NM_000051.3(ATM):c.5736T>C (p.Val1912=) rs1060504302
NM_000051.3(ATM):c.5762+10T>C rs1276744102
NM_000051.3(ATM):c.591A>T (p.Gly197=) rs587780630
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.612A>G (p.Gly204=) rs878853527
NM_000051.3(ATM):c.628T>C (p.Leu210=) rs1555066477
NM_000051.3(ATM):c.636T>C (p.Phe212=) rs1555066499
NM_000051.3(ATM):c.63A>G (p.Thr21=) rs199853729
NM_000051.3(ATM):c.642C>T (p.Ser214=) rs1555066521
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.660G>A (p.Ala220=) rs763669136
NM_000051.3(ATM):c.662+8_662+12delAATCT rs864622475
NM_000051.3(ATM):c.663-6T>A rs1555066907
NM_000051.3(ATM):c.66A>G (p.Glu22=) rs1185359350
NM_000051.3(ATM):c.699A>G (p.Leu233=) rs1555067006
NM_000051.3(ATM):c.69A>G (p.Arg23=) rs876659304
NM_000051.3(ATM):c.702A>G (p.Ala234=) rs752751588
NM_000051.3(ATM):c.717C>T (p.Phe239=) rs779410490
NM_000051.3(ATM):c.735C>G (p.Val245=) rs3218674
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.3(ATM):c.753G>A (p.Val251=) rs876658806
NM_000051.3(ATM):c.762A>G (p.Leu254=) rs1313709939
NM_000051.3(ATM):c.855G>C (p.Leu285=) rs863224299
NM_000051.3(ATM):c.861T>C (p.Ile287=) rs55849405
NM_000051.3(ATM):c.876G>A (p.Pro292=) rs755860432
NM_000051.3(ATM):c.891C>G (p.Thr297=) rs575285986
NM_000051.3(ATM):c.903T>G (p.Gly301=) rs876659335
NM_000051.3(ATM):c.936A>G (p.Leu312=) rs587782257
NM_000051.3(ATM):c.963T>C (p.Asn321=) rs863224301
NM_000051.3(ATM):c.993G>A (p.Lys331=) rs786202048

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