ClinVar Miner

List of variants in gene ATM studied for not specified

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 581
Download table as spreadsheet
HGVS dbSNP
NM_000051.3(ATM):c.-18G>C rs374303671
NM_000051.3(ATM):c.-24A>G rs890413530
NM_000051.3(ATM):c.-25G>T rs1422476659
NM_000051.3(ATM):c.-27G>T rs1057522375
NM_000051.3(ATM):c.-30-15G>A rs776227873
NM_000051.3(ATM):c.-30-17A>G rs549786728
NM_000051.3(ATM):c.-30-19A>G rs763900742
NM_000051.3(ATM):c.-30_-27delACAG rs1555053799
NM_000051.3(ATM):c.-31+12G>A rs962403813
NM_000051.3(ATM):c.-31+6G>T rs1555051184
NM_000051.3(ATM):c.-31+8C>T rs909647503
NM_000051.3(ATM):c.-32_-31dupTG rs876661223
NM_000051.3(ATM):c.-371G>C rs890835455
NM_000051.3(ATM):c.-42C>T rs1057523482
NM_000051.3(ATM):c.-43T>G rs982834411
NM_000051.3(ATM):c.-47A>G rs1057523231
NM_000051.3(ATM):c.1005A>G (p.Gly335=) rs1555068481
NM_000051.3(ATM):c.1009C>T (p.Arg337Cys) rs138398778
NM_000051.3(ATM):c.100A>T (p.Ile34Phe)
NM_000051.3(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.3(ATM):c.1021G>A (p.Val341Ile) rs200601781
NM_000051.3(ATM):c.103C>A (p.Arg35=) rs55861249
NM_000051.3(ATM):c.1044G>A (p.Leu348=) rs879254039
NM_000051.3(ATM):c.1065+18T>A rs774940342
NM_000051.3(ATM):c.1066-6T>G rs201686625
NM_000051.3(ATM):c.1071T>C (p.Phe357=) rs1057521608
NM_000051.3(ATM):c.1073A>G (p.Asn358Ser) rs149636614
NM_000051.3(ATM):c.1096A>G (p.Ile366Val) rs879254198
NM_000051.3(ATM):c.1104A>G (p.Gln368=) rs560691658
NM_000051.3(ATM):c.1110C>T (p.Tyr370=) rs376170600
NM_000051.3(ATM):c.1176C>G (p.Gly392=) rs1800727
NM_000051.3(ATM):c.1185A>G (p.Val395=) rs1555069760
NM_000051.3(ATM):c.1212G>A (p.Gln404=) rs786201519
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1236-3T>C rs763976313
NM_000051.3(ATM):c.1249A>G (p.Thr417Ala) rs863224556
NM_000051.3(ATM):c.1254A>G (p.Gln418=) rs4987943
NM_000051.3(ATM):c.1257A>G (p.Leu419=) rs779037197
NM_000051.3(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.3(ATM):c.1266G>A (p.Lys422=) rs1057520445
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1302A>G (p.Pro434=) rs1555070715
NM_000051.3(ATM):c.1303T>C (p.Leu435=) rs748469311
NM_000051.3(ATM):c.1327C>T (p.Leu443=) rs1057524185
NM_000051.3(ATM):c.1329A>C (p.Leu443=) rs201460863
NM_000051.3(ATM):c.1354A>G (p.Thr452Ala)
NM_000051.3(ATM):c.135G>A (p.Arg45=) rs970407823
NM_000051.3(ATM):c.1380G>A (p.Thr460=) rs145333518
NM_000051.3(ATM):c.1380G>C (p.Thr460=) rs145333518
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.1431G>A (p.Lys477=) rs1555070941
NM_000051.3(ATM):c.1440A>C (p.Leu480Phe) rs370240037
NM_000051.3(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.3(ATM):c.146C>G (p.Ser49Cys) rs1800054
NM_000051.3(ATM):c.1511A>G (p.Asn504Ser) rs56365018
NM_000051.3(ATM):c.1515T>C (p.Phe505=) rs1057520521
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.156A>C (p.Gly52=) rs876660725
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1596C>T (p.Cys532=) rs564050785
NM_000051.3(ATM):c.1607+13T>C rs1057522249
NM_000051.3(ATM):c.1607+16A>G rs1057522219
NM_000051.3(ATM):c.1608-12G>C rs749269085
NM_000051.3(ATM):c.1608-19G>T rs773158102
NM_000051.3(ATM):c.1608-3T>C rs774196176
NM_000051.3(ATM):c.1608-8delT rs1064794419
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.1648A>G (p.Ile550Val) rs202144949
NM_000051.3(ATM):c.1662G>A (p.Thr554=) rs764646531
NM_000051.3(ATM):c.1695A>G (p.Glu565=) rs780932013
NM_000051.3(ATM):c.1701T>C (p.Asn567=) rs878853487
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1758G>A (p.Glu586=) rs1555072017
NM_000051.3(ATM):c.1773T>C (p.Asn591=) rs61734356
NM_000051.3(ATM):c.1776C>T (p.Ser592=) rs1057524304
NM_000051.3(ATM):c.1792A>G (p.Ile598Val) rs730881343
NM_000051.3(ATM):c.1802+16T>C rs995327985
NM_000051.3(ATM):c.1802+16delT rs1064794466
NM_000051.3(ATM):c.1802+35_1802+36del rs749339972
NM_000051.3(ATM):c.1802+7T>G rs1057521381
NM_000051.3(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.3(ATM):c.1814A>G (p.His605Arg) rs771877351
NM_000051.3(ATM):c.185+10T>C rs1555054317
NM_000051.3(ATM):c.185+10T>G rs1555054317
NM_000051.3(ATM):c.186-17A>G rs4987907
NM_000051.3(ATM):c.186-19G>A rs748791429
NM_000051.3(ATM):c.186-7C>T rs55674039
NM_000051.3(ATM):c.186A>G (p.Arg62=) rs876658224
NM_000051.3(ATM):c.1887C>T (p.Ser629=) rs143097772
NM_000051.3(ATM):c.1893A>G (p.Pro631=) rs764702196
NM_000051.3(ATM):c.1898+9T>C rs1057520836
NM_000051.3(ATM):c.1899-11C>T rs730881282
NM_000051.3(ATM):c.1899-55T>G rs4987951
NM_000051.3(ATM):c.1911A>G (p.Gln637=) rs764790965
NM_000051.3(ATM):c.1926A>G (p.Glu642=) rs786201469
NM_000051.3(ATM):c.192A>G (p.Leu64=) rs587780616
NM_000051.3(ATM):c.1938A>G (p.Ser646=) rs1376318521
NM_000051.3(ATM):c.1943T>C (p.Val648Ala) rs141175037
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.1989A>G (p.Leu663=) rs786202748
NM_000051.3(ATM):c.198A>G (p.Lys66=) rs540920248
NM_000051.3(ATM):c.1990A>G (p.Thr664Ala) rs797045319
NM_000051.3(ATM):c.1991C>A (p.Thr664Asn)
NM_000051.3(ATM):c.200A>G (p.Tyr67Cys) rs754033733
NM_000051.3(ATM):c.2019G>A (p.Lys673=) rs786203021
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.2040C>T (p.Phe680=) rs587780855
NM_000051.3(ATM):c.2043T>A (p.Ser681=) rs746422877
NM_000051.3(ATM):c.2064A>G (p.Glu688=) rs772739433
NM_000051.3(ATM):c.2067A>G (p.Ser689=) rs1555073434
NM_000051.3(ATM):c.2068C>T (p.Leu690=) rs1555073437
NM_000051.3(ATM):c.2074C>T (p.Arg692Cys) rs765965513
NM_000051.3(ATM):c.2082T>C (p.Leu694=) rs369642243
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.210A>T (p.Lys70Asn) rs1064793030
NM_000051.3(ATM):c.2119T>C (p.Ser707Pro) rs4986761
NM_000051.3(ATM):c.2124+13A>T rs199648955
NM_000051.3(ATM):c.2124+19dupA rs35211268
NM_000051.3(ATM):c.2124+5G>A
NM_000051.3(ATM):c.2124+6A>T rs550998406
NM_000051.3(ATM):c.2125-16T>C rs1057523016
NM_000051.3(ATM):c.2125A>G (p.Ile709Val) rs864622259
NM_000051.3(ATM):c.2127T>C (p.Ile709=) rs56252953
NM_000051.3(ATM):c.2150G>C (p.Arg717Pro) rs768874297
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.2187C>T (p.Tyr729=) rs373430058
NM_000051.3(ATM):c.2193C>T (p.Tyr731=) rs2229019
NM_000051.3(ATM):c.2223T>C (p.Tyr741=) rs1057524111
NM_000051.3(ATM):c.2238C>T (p.Phe746=) rs786203595
NM_000051.3(ATM):c.2250+15A>G rs1057523706
NM_000051.3(ATM):c.2251-18delT rs730881284
NM_000051.3(ATM):c.2251-19T>C rs370713089
NM_000051.3(ATM):c.2254C>T (p.Leu752=) rs756522395
NM_000051.3(ATM):c.2258T>C (p.Met753Thr) rs587781607
NM_000051.3(ATM):c.225G>A (p.Leu75=) rs1060504306
NM_000051.3(ATM):c.2268A>G (p.Ala756=) rs1057522845
NM_000051.3(ATM):c.2284C>T (p.Leu762=) rs876659401
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2336T>C (p.Met779Thr) rs587778066
NM_000051.3(ATM):c.2346A>C (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2346A>G (p.Leu782=) rs730881285
NM_000051.3(ATM):c.2353C>T (p.Arg785Cys) rs587778065
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+16delT rs779169817
NM_000051.3(ATM):c.2376+17C>T rs1555075846
NM_000051.3(ATM):c.2376+17_2376+19delCTT rs757318914
NM_000051.3(ATM):c.2376+20G>C rs140364468
NM_000051.3(ATM):c.2377-18T>C rs761207086
NM_000051.3(ATM):c.2377-19T>G rs775771700
NM_000051.3(ATM):c.2394T>C (p.Ile798=) rs876659882
NM_000051.3(ATM):c.2396C>T (p.Ala799Val) rs199954262
NM_000051.3(ATM):c.2406T>C (p.Phe802=) rs1472760933
NM_000051.3(ATM):c.2442C>A (p.Asp814Glu) rs3218695
NM_000051.3(ATM):c.2442C>T (p.Asp814=) rs3218695
NM_000051.3(ATM):c.2443A>G (p.Ile815Val) rs746090916
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.2466+7A>G rs55812024
NM_000051.3(ATM):c.2466A>G (p.Leu822=) rs747108452
NM_000051.3(ATM):c.2467-7C>T rs768850329
NM_000051.3(ATM):c.2467-8C>T rs1425701157
NM_000051.3(ATM):c.246A>G (p.Val82=) rs757944864
NM_000051.3(ATM):c.2475C>T (p.Phe825=) rs776907383
NM_000051.3(ATM):c.2476A>C (p.Ile826Leu) rs587782397
NM_000051.3(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.3(ATM):c.2505A>G (p.Val835=) rs1057523506
NM_000051.3(ATM):c.2515G>C (p.Glu839Gln)
NM_000051.3(ATM):c.2517A>T (p.Glu839Asp) rs1060501697
NM_000051.3(ATM):c.2529T>C (p.Asn843=) rs876660189
NM_000051.3(ATM):c.2532A>G (p.Gly844=) rs755261743
NM_000051.3(ATM):c.2571A>G (p.Leu857=) rs1191404395
NM_000051.3(ATM):c.2572T>C (p.Phe858Leu) rs1800056
NM_000051.3(ATM):c.2573dup (p.Asn859Terfs) rs587778068
NM_000051.3(ATM):c.2577C>T (p.Asn859=) rs730881286
NM_000051.3(ATM):c.2578G>C (p.Asp860His)
NM_000051.3(ATM):c.257C>T (p.Thr86Ile) rs755326770
NM_000051.3(ATM):c.2589T>C (p.Asp863=) rs1057520227
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2614C>T (p.Pro872Ser) rs3218673
NM_000051.3(ATM):c.2638+11A>G rs1057521911
NM_000051.3(ATM):c.2638+18A>G rs1057521739
NM_000051.3(ATM):c.2638+3A>G rs876660552
NM_000051.3(ATM):c.2639-17G>T rs2234994
NM_000051.3(ATM):c.2639-22_2639-20delAAT rs1064795554
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.2697C>T (p.Asp899=) rs786202978
NM_000051.3(ATM):c.2720G>T (p.Cys907Phe) rs775371838
NM_000051.3(ATM):c.2735A>G (p.Gln912Arg) rs730881353
NM_000051.3(ATM):c.2739C>A (p.Thr913=) rs1555083293
NM_000051.3(ATM):c.2742T>C (p.Asn914=) rs1057520522
NM_000051.3(ATM):c.2748G>T (p.Val916=) rs1050470790
NM_000051.3(ATM):c.275A>C (p.Lys92Thr) rs200151849
NM_000051.3(ATM):c.276A>G (p.Lys92=) rs786201137
NM_000051.3(ATM):c.2804C>G (p.Thr935Arg) rs3218708
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
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.280A>G (p.Met94Val) rs864622758
NM_000051.3(ATM):c.2823C>A (p.Ser941=) rs750504746
NM_000051.3(ATM):c.2826C>T (p.Leu942=) rs1025892576
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2838+10G>A rs1555083482
NM_000051.3(ATM):c.2838+13A>G rs778502800
NM_000051.3(ATM):c.2838+20G>A rs1310769991
NM_000051.3(ATM):c.2838+4A>G rs876659907
NM_000051.3(ATM):c.2838+9C>A rs370160823
NM_000051.3(ATM):c.2838+9C>G rs370160823
NM_000051.3(ATM):c.2839-16C>T rs761953913
NM_000051.3(ATM):c.2839-18T>C rs553155942
NM_000051.3(ATM):c.2839-4T>C rs1057522619
NM_000051.3(ATM):c.2839-7A>G rs1445472389
NM_000051.3(ATM):c.2844A>G (p.Leu948=) rs1555084628
NM_000051.3(ATM):c.2859G>A (p.Glu953=) rs569489729
NM_000051.3(ATM):c.2865T>C (p.Pro955=) rs1555084654
NM_000051.3(ATM):c.2873A>G (p.Glu958Gly) rs587778069
NM_000051.3(ATM):c.289A>G (p.Ile97Val)
NM_000051.3(ATM):c.2913A>G (p.Lys971=) rs1057522291
NM_000051.3(ATM):c.2921+15C>A rs1057521619
NM_000051.3(ATM):c.2921+16C>A rs558376224
NM_000051.3(ATM):c.2921+19_2921+20insA rs56112367
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.2922-14T>C rs761100734
NM_000051.3(ATM):c.2922-21T>G rs149096247
NM_000051.3(ATM):c.2922-8T>A rs545892367
NM_000051.3(ATM):c.2922C>T (p.Ser974=) rs758045139
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.2958T>G (p.Val986=) rs745971584
NM_000051.3(ATM):c.2967T>C (p.Thr989=) rs144145128
NM_000051.3(ATM):c.2994G>A (p.Val998=) rs1555085118
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.3044A>G (p.Gln1015Arg) rs587778070
NM_000051.3(ATM):c.3077+13T>A rs1057524204
NM_000051.3(ATM):c.3077+15T>C rs1555085277
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3078-12A>T rs1555085749
NM_000051.3(ATM):c.3078-77C>T rs664677
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.3118A>G (p.Met1040Val) rs3092857
NM_000051.3(ATM):c.3126A>G (p.Leu1042=) rs770038542
NM_000051.3(ATM):c.3138T>G (p.Leu1046=) rs3092858
NM_000051.3(ATM):c.3139A>G (p.Lys1047Glu) rs587778071
NM_000051.3(ATM):c.3150T>C (p.Leu1050=) rs3092859
NM_000051.3(ATM):c.3153+18T>G rs1555085921
NM_000051.3(ATM):c.3153+20T>A rs200786429
NM_000051.3(ATM):c.3153+20T>C rs200786429
NM_000051.3(ATM):c.3153+20dupT rs760492979
NM_000051.3(ATM):c.3154-20C>T rs1057522141
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.3154-7C>T rs756615573
NM_000051.3(ATM):c.315C>T (p.Ile105=) rs1057522344
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3175G>A (p.Ala1059Thr) rs370282831
NM_000051.3(ATM):c.3205C>A (p.Pro1069Thr)
NM_000051.3(ATM):c.3228A>G (p.Gln1076=) rs1057522201
NM_000051.3(ATM):c.322G>A (p.Ala108Thr) rs730881370
NM_000051.3(ATM):c.3237T>C (p.Ala1079=) rs564238520
NM_000051.3(ATM):c.3265G>T (p.Ala1089Ser) rs730881358
NM_000051.3(ATM):c.3284+7G>C rs371629629
NM_000051.3(ATM):c.3284+9T>C rs1555086278
NM_000051.3(ATM):c.3285-12G>A rs1057521452
NM_000051.3(ATM):c.3285-15C>T rs770928986
NM_000051.3(ATM):c.3285-16G>T rs1057524332
NM_000051.3(ATM):c.3285-19_3285-16delTTTG rs750490644
NM_000051.3(ATM):c.3285-19_3285-16dupTTTG rs750490644
NM_000051.3(ATM):c.3285-9delT rs1799757
NM_000051.3(ATM):c.3296A>G (p.Asp1099Gly) rs587778072
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.332-3T>C rs376116157
NM_000051.3(ATM):c.332-5A>T rs1057522447
NM_000051.3(ATM):c.3328G>A (p.Ala1110Thr) rs147112946
NM_000051.3(ATM):c.3335C>G (p.Pro1112Arg) rs1064795850
NM_000051.3(ATM):c.3336T>A (p.Pro1112=) rs758784434
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3383A>G (p.Gln1128Arg) rs2229020
NM_000051.3(ATM):c.3388G>A (p.Gly1130Arg)
NM_000051.3(ATM):c.33C>T (p.Cys11=) rs1555053901
NM_000051.3(ATM):c.3402+10A>C rs919002854
NM_000051.3(ATM):c.3402+17T>C rs3092825
NM_000051.3(ATM):c.3402+18G>A rs752000273
NM_000051.3(ATM):c.3402+5T>C rs1057520229
NM_000051.3(ATM):c.3402+9A>G rs761919506
NM_000051.3(ATM):c.3403-14dupA rs3218681
NM_000051.3(ATM):c.3403-15T>A rs79701258
NM_000051.3(ATM):c.3411T>C (p.Ser1137=) rs369518512
NM_000051.3(ATM):c.3447T>C (p.Asn1149=) rs763473729
NM_000051.3(ATM):c.3463C>T (p.Leu1155=) rs1555091217
NM_000051.3(ATM):c.3468G>A (p.Thr1156=) rs148358896
NM_000051.3(ATM):c.3478G>C (p.Val1160Leu) rs567344545
NM_000051.3(ATM):c.3480G>T (p.Val1160=) rs1001303564
NM_000051.3(ATM):c.3498T>C (p.Pro1166=) rs1555091273
NM_000051.3(ATM):c.3504C>T (p.Cys1168=) rs876658368
NM_000051.3(ATM):c.3517T>C (p.Leu1173=) rs141460670
NM_000051.3(ATM):c.3549T>C (p.Asn1183=) rs767377764
NM_000051.3(ATM):c.3576+10G>A rs1057523063
NM_000051.3(ATM):c.3577-13T>C rs587780856
NM_000051.3(ATM):c.3577-15T>C rs1057521733
NM_000051.3(ATM):c.3577-6G>A rs56006345
NM_000051.3(ATM):c.3577-7C>T rs558667657
NM_000051.3(ATM):c.3577-8T>C rs1555092222
NM_000051.3(ATM):c.3588A>G (p.Lys1196=) rs376524625
NM_000051.3(ATM):c.3594T>C (p.Ser1198=) rs1555092263
NM_000051.3(ATM):c.3618A>G (p.Leu1206=) rs786201151
NM_000051.3(ATM):c.3630G>A (p.Met1210Ile) rs587778073
NM_000051.3(ATM):c.3639T>C (p.His1213=) rs142766756
NM_000051.3(ATM):c.3665T>C (p.Leu1222Pro) rs863224563
NM_000051.3(ATM):c.3666A[5] (p.Asn1223Lysfs) rs1555092425
NM_000051.3(ATM):c.370A>G (p.Ile124Val) rs148590073
NM_000051.3(ATM):c.3746+17C>G rs1057520850
NM_000051.3(ATM):c.3746+17C>T rs1057520850
NM_000051.3(ATM):c.3746+4A>C rs1555092593
NM_000051.3(ATM):c.3747-16A>G rs1555093241
NM_000051.3(ATM):c.3747-7T>C rs1057523136
NM_000051.3(ATM):c.3747-8A>G rs569612113
NM_000051.3(ATM):c.3771A>C (p.Pro1257=) rs1057523320
NM_000051.3(ATM):c.3771A>G (p.Pro1257=) rs1057523320
NM_000051.3(ATM):c.3777G>A (p.Leu1259=) rs780192529
NM_000051.3(ATM):c.378T>A (p.Asp126Glu) rs2234997
NM_000051.3(ATM):c.3793T>C (p.Phe1265Leu) rs371526361
NM_000051.3(ATM):c.3813T>C (p.Ile1271=) rs1057522326
NM_000051.3(ATM):c.381A>G (p.Thr127=) rs762582522
NM_000051.3(ATM):c.382G>A (p.Val128Met) rs587779835
NM_000051.3(ATM):c.3831G>A (p.Glu1277=) rs587781787
NM_000051.3(ATM):c.3831G>C (p.Glu1277Asp) rs587781787
NM_000051.3(ATM):c.3848T>C (p.Leu1283Pro) rs730881389
NM_000051.3(ATM):c.3888T>C (p.Pro1296=) rs1555093582
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.3942T>C (p.Thr1314=) rs558360643
NM_000051.3(ATM):c.3952G>T (p.Val1318Phe) rs587778074
NM_000051.3(ATM):c.3963G>A (p.Met1321Ile) rs35184530
NM_000051.3(ATM):c.3993+12A>G rs1057520703
NM_000051.3(ATM):c.3993+5G>T rs3092842
NM_000051.3(ATM):c.3994-11_3994-4delTGCCCTTG rs1060501665
NM_000051.3(ATM):c.3994-121delC rs56013141
NM_000051.3(ATM):c.3994-12G>A rs1057520398
NM_000051.3(ATM):c.3994-12G>T rs1057520398
NM_000051.3(ATM):c.3994-193T>C rs609261
NM_000051.3(ATM):c.3994-97G>A rs4988000
NM_000051.3(ATM):c.4008C>T (p.Phe1336=) rs748055132
NM_000051.3(ATM):c.400G>A (p.Gly134Ser) rs2234998
NM_000051.3(ATM):c.4018T>C (p.Leu1340=) rs1057522187
NM_000051.3(ATM):c.4042T>C (p.Leu1348=) rs56355831
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.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.3(ATM):c.4062A>C (p.Pro1354=) rs1555095974
NM_000051.3(ATM):c.4066A>G (p.Asn1356Asp) rs147600485
NM_000051.3(ATM):c.4071T>C (p.Ser1357=) rs767516955
NM_000051.3(ATM):c.4082A>G (p.Gln1361Arg) rs141921797
NM_000051.3(ATM):c.4109+10T>C
NM_000051.3(ATM):c.4109+11T>C rs749158400
NM_000051.3(ATM):c.4109+15A>C rs1057523527
NM_000051.3(ATM):c.4109+4T>C rs754706599
NM_000051.3(ATM):c.4109+9A>C rs730881289
NM_000051.3(ATM):c.4110-18T>C rs1057523967
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.4145C>T (p.Pro1382Leu) rs752460436
NM_000051.3(ATM):c.4146A>G (p.Pro1382=) rs147738621
NM_000051.3(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
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>G (p.Ala1391=) rs1060504284
NM_000051.3(ATM):c.4236+11A>G rs368684533
NM_000051.3(ATM):c.4236+15_4236+17delTGA rs1064794349
NM_000051.3(ATM):c.4237-13G>A rs778685615
NM_000051.3(ATM):c.4237-19A>C rs753311330
NM_000051.3(ATM):c.4237-9_4237-7delATT rs1555097355
NM_000051.3(ATM):c.4258C>T (p.Leu1420Phe) rs1800058
NM_000051.3(ATM):c.4291A>C (p.Asn1431His)
NM_000051.3(ATM):c.42A>G (p.Gln14=) rs771378101
NM_000051.3(ATM):c.4304A>C (p.Lys1435Thr) rs769980220
NM_000051.3(ATM):c.4304A>G (p.Lys1435Arg) rs769980220
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.433C>T (p.Leu145=) rs587782328
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.4397_4398delGAinsCG (p.Arg1466Pro) rs886038217
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.4402G>A (p.Val1468Ile) rs369903995
NM_000051.3(ATM):c.4410T>C (p.Tyr1470=) rs1057521912
NM_000051.3(ATM):c.4416G>A (p.Leu1472=) rs201526888
NM_000051.3(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.3(ATM):c.4426A>G (p.Ile1476Val)
NM_000051.3(ATM):c.4436+10A>G rs878853509
NM_000051.3(ATM):c.4436+12A>G rs1057521715
NM_000051.3(ATM):c.4436+20C>G rs1057523454
NM_000051.3(ATM):c.4436+7A>G rs749971237
NM_000051.3(ATM):c.4437-14T>C rs900984301
NM_000051.3(ATM):c.4437-14delT rs730881290
NM_000051.3(ATM):c.4437-20T>G rs558432723
NM_000051.3(ATM):c.4437-3T>C rs1555099722
NM_000051.3(ATM):c.4437-7A>G rs370354306
NM_000051.3(ATM):c.4437-9C>T rs766003804
NM_000051.3(ATM):c.4449C>T (p.Ile1483=) rs786203726
NM_000051.3(ATM):c.4465C>T (p.Arg1489Cys) rs754181173
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.4518G>A (p.Val1506=) rs1057524110
NM_000051.3(ATM):c.4544A>C (p.Asn1515Thr)
NM_000051.3(ATM):c.4545C>T (p.Asn1515=) rs764039368
NM_000051.3(ATM):c.4560T>C (p.Ile1520=) rs1057520925
NM_000051.3(ATM):c.4561G>C (p.Val1521Leu) rs141329176
NM_000051.3(ATM):c.4569A>G (p.Thr1523=) rs1555099963
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.4584G>T (p.Val1528=) rs1555100000
NM_000051.3(ATM):c.4606A>G (p.Lys1536Glu) rs587779841
NM_000051.3(ATM):c.4611+12A>G rs1057520230
NM_000051.3(ATM):c.4611+18C>T rs1057522843
NM_000051.3(ATM):c.4611+19T>C rs776602821
NM_000051.3(ATM):c.4611+8T>C rs1057522426
NM_000051.3(ATM):c.4611+9C>G rs760704159
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.4631A>G (p.Tyr1544Cys) rs779718362
NM_000051.3(ATM):c.4656T>C (p.Asn1552=) rs876658379
NM_000051.3(ATM):c.4658A>C (p.Glu1553Ala) rs587778075
NM_000051.3(ATM):c.4665C>T (p.Leu1555=) rs374431061
NM_000051.3(ATM):c.4668T>C (p.Tyr1556=) rs766438805
NM_000051.3(ATM):c.4704T>C (p.His1568=) rs1057522200
NM_000051.3(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.3(ATM):c.4713T>C (p.Phe1571=) rs750027746
NM_000051.3(ATM):c.4731T>A (p.Thr1577=) rs145236132
NM_000051.3(ATM):c.4731T>C (p.Thr1577=) rs145236132
NM_000051.3(ATM):c.4746A>G (p.Lys1582=) rs1555100593
NM_000051.3(ATM):c.4761C>G (p.Pro1587=) rs769562370
NM_000051.3(ATM):c.4770C>A (p.Leu1590=) rs749475519
NM_000051.3(ATM):c.4776+17C>G rs767641642
NM_000051.3(ATM):c.4777-10dupT rs1398289633
NM_000051.3(ATM):c.4777-15C>T rs1057521023
NM_000051.3(ATM):c.4777-20A>G rs3218678
NM_000051.3(ATM):c.4779A>G (p.Glu1593=) rs587778076
NM_000051.3(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.3(ATM):c.4803T>C (p.Ser1601=) rs964364958
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.482A>C (p.Gln161Pro) rs587780625
NM_000051.3(ATM):c.4833T>A (p.Leu1611=) rs769025179
NM_000051.3(ATM):c.4840C>T (p.Leu1614=) rs777239020
NM_000051.3(ATM):c.4842A>G (p.Leu1614=) rs1057520429
NM_000051.3(ATM):c.4860A>G (p.Gln1620=) rs1057520446
NM_000051.3(ATM):c.4878T>C (p.Asp1626=) rs755687834
NM_000051.3(ATM):c.4880A>T (p.Gln1627Leu) rs786203857
NM_000051.3(ATM):c.489G>A (p.Gln163=) rs1057523087
NM_000051.3(ATM):c.4910-16A>T rs866500582
NM_000051.3(ATM):c.4910-4C>T rs786202493
NM_000051.3(ATM):c.4910-7T>A rs3092872
NM_000051.3(ATM):c.4917G>A (p.Pro1639=) rs140425622
NM_000051.3(ATM):c.4949A>G (p.Asn1650Ser) rs55870064
NM_000051.3(ATM):c.496+14G>C rs776887214
NM_000051.3(ATM):c.496+18T>A rs762171014
NM_000051.3(ATM):c.496+18T>C rs762171014
NM_000051.3(ATM):c.496+4T>C rs587781375
NM_000051.3(ATM):c.496+4T>G rs587781375
NM_000051.3(ATM):c.497-14T>A rs757147178
NM_000051.3(ATM):c.497-4delT rs768748099
NM_000051.3(ATM):c.4980C>T (p.Asn1660=) rs144338238
NM_000051.3(ATM):c.498A>C (p.Glu166Asp) 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+15T>A rs377355762
NM_000051.3(ATM):c.5005+15T>C rs377355762
NM_000051.3(ATM):c.5005+17C>G rs200688912
NM_000051.3(ATM):c.5005+18G>A rs76290788
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.5006-18T>A rs768321973
NM_000051.3(ATM):c.5006-8A>G rs1057520447
NM_000051.3(ATM):c.5006-8A>T rs1057520447
NM_000051.3(ATM):c.5061T>A (p.Ala1687=) rs1555104600
NM_000051.3(ATM):c.5062A>G (p.Ile1688Val) rs766053182
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.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.5091C>T (p.Thr1697=) rs1555104680
NM_000051.3(ATM):c.5096C>T (p.Ala1699Val)
NM_000051.3(ATM):c.510G>A (p.Val170=) rs375682557
NM_000051.3(ATM):c.5127G>A (p.Gln1709=) rs1057521839
NM_000051.3(ATM):c.512A>G (p.Tyr171Cys) rs1060501616
NM_000051.3(ATM):c.5151C>T (p.Tyr1717=) rs1057523468
NM_000051.3(ATM):c.5157T>C (p.Asn1719=) rs786203254
NM_000051.3(ATM):c.5178-11G>A rs200876654
NM_000051.3(ATM):c.5178-18T>C rs1057522381
NM_000051.3(ATM):c.5178-5T>C rs1555105570
NM_000051.3(ATM):c.5189G>A (p.Arg1730Gln) rs373789346
NM_000051.3(ATM):c.518G>T (p.Arg173Met) rs372694758
NM_000051.3(ATM):c.5190A>G (p.Arg1730=) rs786201609
NM_000051.3(ATM):c.5292A>G (p.Leu1764=) rs786201703
NM_000051.3(ATM):c.5320-10T>C rs864622731
NM_000051.3(ATM):c.5320-14C>T rs182663175
NM_000051.3(ATM):c.5352C>T (p.Asn1784=) rs140641762
NM_000051.3(ATM):c.5357T>C (p.Phe1786Ser) rs1555106375
NM_000051.3(ATM):c.537A>T (p.Ser179=) rs1555066338
NM_000051.3(ATM):c.5430T>G (p.Thr1810=) rs1057522229
NM_000051.3(ATM):c.544G>C (p.Val182Leu) rs3218707
NM_000051.3(ATM):c.5459A>C (p.Lys1820Thr) rs983664978
NM_000051.3(ATM):c.5496+11T>C rs751491395
NM_000051.3(ATM):c.5496+11T>G rs751491395
NM_000051.3(ATM):c.5497-15G>C rs3092828
NM_000051.3(ATM):c.5497-8T>C rs3092829
NM_000051.3(ATM):c.5497-9A>G rs878853524
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.5559T>C (p.Asp1853=) rs1555107393
NM_000051.3(ATM):c.5571A>G (p.Ser1857=) rs777570286
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.5633C>T (p.Ser1878Leu) rs758908522
NM_000051.3(ATM):c.5634G>A (p.Ser1878=) rs767070325
NM_000051.3(ATM):c.5640G>T (p.Thr1880=) rs757103582
NM_000051.3(ATM):c.5649C>T (p.Ser1883=) rs1057522721
NM_000051.3(ATM):c.5653dupA (p.Thr1885Asnfs) rs587778077
NM_000051.3(ATM):c.5658T>C (p.Pro1886=) rs940182945
NM_000051.3(ATM):c.5693G>A (p.Arg1898Gln) rs370680798
NM_000051.3(ATM):c.56G>A (p.Arg19Lys) rs1064793029
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.5762+6G>A rs776532221
NM_000051.3(ATM):c.591A>T (p.Gly197=) rs587780630
NM_000051.3(ATM):c.5G>C (p.Ser2Thr) rs730881360
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.615A>G (p.Leu205=) rs1555066455
NM_000051.3(ATM):c.649A>G (p.Ile217Val) rs547045780
NM_000051.3(ATM):c.655T>C (p.Cys219Arg) rs771685059
NM_000051.3(ATM):c.657T>C (p.Cys219=) rs2235003
NM_000051.3(ATM):c.659C>T (p.Ala220Val) rs145355104
NM_000051.3(ATM):c.662+13_662+14delCT rs1064795370
NM_000051.3(ATM):c.662+8_662+12delAATCT rs864622475
NM_000051.3(ATM):c.670A>G (p.Lys224Glu) rs145053092
NM_000051.3(ATM):c.672G>C (p.Lys224Asn) rs769731317
NM_000051.3(ATM):c.68G>A (p.Arg23Gln) rs587779858
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.72+20C>G rs1555053997
NM_000051.3(ATM):c.72+5_72+6delTAinsCTT rs1555053982
NM_000051.3(ATM):c.72+6A>G rs1057520800
NM_000051.3(ATM):c.73-14C>A rs766284348
NM_000051.3(ATM):c.73-15C>A rs1216989217
NM_000051.3(ATM):c.73-19A>G rs1555054028
NM_000051.3(ATM):c.73-3C>T rs1555054039
NM_000051.3(ATM):c.735C>T (p.Val245=) rs3218674
NM_000051.3(ATM):c.737A>G (p.Asn246Ser) rs781023264
NM_000051.3(ATM):c.741T>C (p.Phe247=) rs876659081
NM_000051.3(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.3(ATM):c.753G>A (p.Val251=) rs876658806
NM_000051.3(ATM):c.76G>C (p.Glu26Gln) rs730881361
NM_000051.3(ATM):c.773T>G (p.Ile258Ser) rs730881337
NM_000051.3(ATM):c.843A>G (p.Glu281=) rs1057523419
NM_000051.3(ATM):c.858A>G (p.Gln286=) rs145301478
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.901+12A>G rs759379354
NM_000051.3(ATM):c.901+14delG rs1064795038
NM_000051.3(ATM):c.901+7A>G rs1057523569
NM_000051.3(ATM):c.909T>C (p.Tyr303=) rs1555068288
NM_000051.3(ATM):c.951T>G (p.Asp317Glu) rs876659199
NM_000051.3(ATM):c.95G>A (p.Arg32His) rs368161489
NM_000051.3(ATM):c.97C>T (p.Leu33=) rs1057522542
NM_000051.3(ATM):c.990A>G (p.Gly330=) rs1555068447
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919

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.