ClinVar Miner

List of variants in gene ATM reported by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 239
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn) rs1801516 0.10783
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg) rs1800057 0.01452
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00441
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
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.2362A>C (p.Ser788Arg) rs641252 0.00265
NM_000051.4(ATM):c.2921+19dup rs56112367 0.00245
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000051.4(ATM):c.609C>T (p.Asp203=) rs144709948 0.00166
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.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_000051.4(ATM):c.2125-48T>C rs371067508 0.00101
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.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.3403-14A>T rs941737393 0.00038
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg) rs141921797 0.00029
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548 0.00026
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser) rs2235011 0.00022
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr) rs145812395 0.00021
NM_000051.4(ATM):c.1272T>C (p.Pro424=) rs35578748 0.00019
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485 0.00019
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 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.3077+4G>A rs201222237 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.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000051.4(ATM):c.2778A>G (p.Lys926=) rs372569168 0.00009
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759 0.00009
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026 0.00007
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 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.749G>A (p.Arg250Gln) rs56123940 0.00007
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.946T>C (p.Tyr316His) rs142317485 0.00006
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp) rs55723361 0.00005
NM_000051.4(ATM):c.3403-14_3403-13del rs1565441205 0.00005
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys) rs587779816 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.3154-5C>T rs55719759 0.00004
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784 0.00004
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg) rs730881353 0.00003
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe) rs786203389 0.00003
NM_000051.4(ATM):c.395C>T (p.Ser132Phe) rs750969764 0.00003
NM_000051.4(ATM):c.4910-248T>C rs550591525 0.00003
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln) rs373789346 0.00003
NM_000051.4(ATM):c.1237C>T (p.Leu413=) rs1565381686 0.00002
NM_000051.4(ATM):c.2115C>T (p.Tyr705=) rs876659149 0.00002
NM_000051.4(ATM):c.2159G>A (p.Arg720His) rs55830714 0.00002
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys) rs587779830 0.00002
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys) rs778123057 0.00002
NM_000051.4(ATM):c.4437-9C>T rs766003804 0.00002
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile) rs538452060 0.00002
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985 0.00002
NM_000051.4(ATM):c.1049C>T (p.Ala350Val) rs375049090 0.00001
NM_000051.4(ATM):c.104G>A (p.Arg35Gln) rs876659324 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.149A>G (p.Lys50Arg) rs1479478300 0.00001
NM_000051.4(ATM):c.2167G>T (p.Val723Leu) rs1419404231 0.00001
NM_000051.4(ATM):c.2336T>C (p.Met779Thr) rs587778066 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser) rs730881354 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.3299C>T (p.Thr1100Met) rs189445371 0.00001
NM_000051.4(ATM):c.3407A>G (p.His1136Arg) rs768490475 0.00001
NM_000051.4(ATM):c.3549T>C (p.Asn1183=) rs767377764 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys) rs760928285 0.00001
NM_000051.4(ATM):c.3676G>C (p.Asp1226His) rs370974808 0.00001
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly) rs958750512 0.00001
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly) rs751169467 0.00001
NM_000051.4(ATM):c.4151A>G (p.His1384Arg) rs757172522 0.00001
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly) rs876658711 0.00001
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506 0.00001
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser) rs730881373 0.00001
NM_000051.4(ATM):c.5658T>C (p.Pro1886=) rs940182945 0.00001
NM_000051.4(ATM):c.655T>C (p.Cys219Arg) rs771685059 0.00001
NM_000051.4(ATM):c.692A>G (p.His231Arg) rs587782229 0.00001
NM_000051.4(ATM):c.718C>T (p.Leu240Phe) rs1210038351 0.00001
NM_000051.4(ATM):c.902-22A>C rs766650801 0.00001
NM_000051.4(ATM):c.94C>T (p.Arg32Cys) rs148061139 0.00001
NC_000011.10:g.108222768C>T rs1056339095
NM_000051.3(ATM):c.-328A>T rs4987880
NM_000051.4(ATM):c.-15C>T rs1204830852
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1065+1G>T rs201089102
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn) rs1565378803
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe) rs762557654
NM_000051.4(ATM):c.1236-10_1236-3dup rs34325032
NM_000051.4(ATM):c.1236-1G>T rs1408719214
NM_000051.4(ATM):c.1236-1_1237del rs1591522664
NM_000051.4(ATM):c.1236-2A>G rs80159221
NM_000051.4(ATM):c.1236-2_1236-1del rs1591522638
NM_000051.4(ATM):c.1236-2_1236del rs1591522646
NM_000051.4(ATM):c.1236-2_1237del rs1591522650
NM_000051.4(ATM):c.1236-3del rs34325032
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys) rs79220522
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs) rs1591522681
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup) rs1420011788
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs) rs1420011788
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys) rs866521873
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe) rs1591522786
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser) rs769214234
NM_000051.4(ATM):c.1274C>A (p.Ala425Glu) rs1301649540
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala) rs1064795171
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu) rs786204124
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln) rs780097986
NM_000051.4(ATM):c.1483A>G (p.Ile495Val) rs786201969
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter) rs1555071075
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) rs2135325561
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs) rs1565385883
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln) rs779780896
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln) rs2135365529
NM_000051.4(ATM):c.2068C>A (p.Leu690Met) rs1555073437
NM_000051.4(ATM):c.2124+5G>A rs1565390942
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala) rs1565394509
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser) rs1565394820
NM_000051.4(ATM):c.2254C>G (p.Leu752Val) rs756522395
NM_000051.4(ATM):c.2376+9TTC[2] rs757318914
NM_000051.4(ATM):c.2466+5G>T rs1064795969
NM_000051.4(ATM):c.2467-90C>T rs2135503255
NM_000051.4(ATM):c.2476A>G (p.Ile826Val) rs587782397
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln) rs1565416001
NM_000051.4(ATM):c.2533A>C (p.Asn845His) rs1591587679
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln) rs879254046
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg) rs2081310612
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly) rs2081311812
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly) rs1555082338
NM_000051.4(ATM):c.2639-21A>G rs2135522420
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly) rs2081381149
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr) rs762078586
NM_000051.4(ATM):c.2921+4A>C rs1565424660
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2945G>A (p.Arg982His) rs749471737
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile) rs1565427949
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser) rs1373504805
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs) rs1565429102
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg) rs1060501590
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter) rs2135644009
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile) rs539847847
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val) rs1565439583
NM_000051.4(ATM):c.3403-13A>T rs1591636037
NM_000051.4(ATM):c.3403-9C>T rs375483605
NM_000051.4(ATM):c.3435del (p.Asp1145fs) rs1591636349
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter) rs1591636613
NM_000051.4(ATM):c.3577-30C>T rs751436997
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys) rs367603277
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met) rs1005444925
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro) rs1555093536
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly) rs864622137
NM_000051.4(ATM):c.403G>A (p.Ala135Thr) rs1272089657
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys) rs730881390
NM_000051.4(ATM):c.4109+8C>T rs1591656404
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val) rs762242838
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser) rs1565454896
NM_000051.4(ATM):c.4236+7A>G rs1207435429
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala) rs2082684549
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr) rs1060501653
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter) rs1555100005
NM_000051.4(ATM):c.4612-11A>T rs1217349031
NM_000051.4(ATM):c.4612-12A>T rs1326401118
NM_000051.4(ATM):c.4612-13A>T rs1267116629
NM_000051.4(ATM):c.4612-19C>T rs1336477936
NM_000051.4(ATM):c.4664T>A (p.Leu1555His) rs1060501524
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly) rs1565463405
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.4777-6T>C rs1565465980
NM_000051.4(ATM):c.4787A>G (p.His1596Arg) rs2135833806
NM_000051.4(ATM):c.4910-1G>C rs1060501706
NM_000051.4(ATM):c.497-1G>T rs778624615
NM_000051.4(ATM):c.497-2A>T rs1278985870
NM_000051.4(ATM):c.497-2_498del rs1591499502
NM_000051.4(ATM):c.497-3_498del rs1205233530
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys) rs144338238
NM_000051.4(ATM):c.498A>T (p.Glu166Asp) rs587779842
NM_000051.4(ATM):c.501G>T (p.Leu167Phe) rs1181703620
NM_000051.4(ATM):c.504C>T (p.Phe168=) rs1060504312
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala) rs879254205
NM_000051.4(ATM):c.506C>T (p.Ser169Phe) rs587779843
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe) rs1060501616
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn) rs1291016764
NM_000051.4(ATM):c.513C>T (p.Tyr171=) rs786201693
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys) rs1565474287
NM_000051.4(ATM):c.520C>T (p.Leu174Phe) rs1565369274
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys) rs777481236
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys) rs1192250974
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter) rs121434223
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys) rs1416930012
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe) rs1565479431
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe) rs2135943227
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys) rs1060501568
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe) rs149362482
NM_000051.4(ATM):c.55A>G (p.Arg19Gly) rs1565344118
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu) rs975721205
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln) rs762304746
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys) rs587780628
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5715A>G (p.Ser1905=) rs1057524579
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs) rs1591732424
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly) rs1060501527
NM_000051.4(ATM):c.610G>T (p.Gly204Ter) rs147915571
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.68G>A (p.Arg23Gln) rs587779858
NM_000051.4(ATM):c.748C>T (p.Arg250Ter) rs772821016
NM_000051.4(ATM):c.75A>G (p.Lys25=) rs1591446716
NM_000051.4(ATM):c.795T>G (p.Ile265Met) rs1290222131
NM_000051.4(ATM):c.865A>G (p.Ile289Val) rs1555067259
NM_000051.4(ATM):c.969A>G (p.Ile323Met) rs1565375220

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