ClinVar Miner

List of variants in gene RAD50 studied for Nijmegen breakage syndrome-like disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 260
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_005732.4(RAD50):c.2397G>C (p.Gln799His) rs61749630 0.00036
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_005732.4(RAD50):c.1154G>A (p.Arg385His) rs150030986 0.00030
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_005732.4(RAD50):c.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005732.4(RAD50):c.2525T>C (p.Val842Ala) rs28903093 0.00020
NM_005732.4(RAD50):c.2903G>A (p.Gly968Glu) rs199895166 0.00017
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.259C>T (p.Arg87Cys) rs143802516 0.00014
NM_005732.4(RAD50):c.1402G>A (p.Glu468Lys) rs145031602 0.00013
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005732.4(RAD50):c.2548C>T (p.Arg850Cys) rs181961360 0.00010
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg) rs200017020 0.00009
NM_005732.4(RAD50):c.265G>A (p.Val89Ile) rs151109830 0.00009
NM_005732.4(RAD50):c.2840T>C (p.Ile947Thr) rs150401251 0.00009
NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met) rs587781940 0.00008
NM_005732.4(RAD50):c.130-10A>G rs200760698 0.00006
NM_005732.4(RAD50):c.1556G>T (p.Arg519Leu) rs140333740 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005732.4(RAD50):c.3342A>G (p.Thr1114=) rs776513888 0.00006
NM_005732.4(RAD50):c.610A>G (p.Lys204Glu) rs202197835 0.00006
NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile) rs562172843 0.00005
NM_005732.4(RAD50):c.3230G>A (p.Arg1077Gln) rs104895051 0.00005
NM_005732.4(RAD50):c.426T>C (p.Ser142=) rs368752746 0.00005
NM_005732.4(RAD50):c.1192A>G (p.Lys398Glu) rs756173890 0.00004
NM_005732.4(RAD50):c.1457G>A (p.Arg486His) rs776949511 0.00004
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.1603C>T (p.Arg535Cys) rs762188153 0.00004
NM_005732.4(RAD50):c.2046C>T (p.Pro682=) rs759476003 0.00004
NM_005732.4(RAD50):c.2047G>A (p.Val683Ile) rs367925756 0.00004
NM_005732.4(RAD50):c.2203A>C (p.Met735Leu) rs144890318 0.00004
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr) rs768127412 0.00004
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382 0.00004
NM_005732.4(RAD50):c.511G>T (p.Ala171Ser) rs143483210 0.00004
NM_005732.4(RAD50):c.625G>C (p.Glu209Gln) rs587780158 0.00004
NM_005732.4(RAD50):c.695C>A (p.Ala232Asp) rs28903089 0.00004
NM_005732.4(RAD50):c.2891A>T (p.Tyr964Phe) rs377466333 0.00003
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485 0.00003
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_005732.4(RAD50):c.1604G>A (p.Arg535His) rs200548021 0.00002
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) rs779597467 0.00002
NM_005732.4(RAD50):c.1992A>G (p.Ala664=) rs773126534 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_005732.4(RAD50):c.2113C>T (p.Leu705=) rs779776271 0.00002
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452 0.00002
NM_005732.4(RAD50):c.217G>A (p.Ala73Thr) rs371122101 0.00002
NM_005732.4(RAD50):c.2298C>T (p.Asn766=) rs144186349 0.00002
NM_005732.4(RAD50):c.2780A>C (p.Glu927Ala) rs748077241 0.00002
NM_005732.4(RAD50):c.282A>G (p.Ile94Met) rs786202847 0.00002
NM_005732.4(RAD50):c.2914T>C (p.Tyr972His) rs864622743 0.00002
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595 0.00002
NM_005732.4(RAD50):c.673G>A (p.Asp225Asn) rs587780159 0.00002
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644 0.00002
NM_005732.4(RAD50):c.1052-16del rs757412385 0.00001
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593 0.00001
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) rs375070140 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.129+1G>T rs1339714611 0.00001
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.130A>T (p.Thr44Ser) rs377388354 0.00001
NM_005732.4(RAD50):c.1378G>A (p.Val460Met) rs587782440 0.00001
NM_005732.4(RAD50):c.1406G>C (p.Gly469Ala) rs55653181 0.00001
NM_005732.4(RAD50):c.1484G>A (p.Ser495Asn) rs1060501967 0.00001
NM_005732.4(RAD50):c.1721A>G (p.Lys574Arg) rs1386858430 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.1876G>A (p.Glu626Lys) rs763432574 0.00001
NM_005732.4(RAD50):c.193dup (p.Thr65fs) rs1750079483 0.00001
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904 0.00001
NM_005732.4(RAD50):c.213+1G>T rs765484171 0.00001
NM_005732.4(RAD50):c.214G>A (p.Val72Ile) rs118029772 0.00001
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs) rs587781454 0.00001
NM_005732.4(RAD50):c.2174G>A (p.Arg725Gln) rs372808845 0.00001
NM_005732.4(RAD50):c.2197G>A (p.Val733Met) rs1315534097 0.00001
NM_005732.4(RAD50):c.2204T>A (p.Met735Lys) rs757043253 0.00001
NM_005732.4(RAD50):c.2209C>G (p.Gln737Glu) rs549559726 0.00001
NM_005732.4(RAD50):c.2273A>G (p.Asn758Ser) rs147568421 0.00001
NM_005732.4(RAD50):c.2314G>A (p.Glu772Lys) rs587782899 0.00001
NM_005732.4(RAD50):c.2457A>G (p.Ile819Met) rs143554330 0.00001
NM_005732.4(RAD50):c.2468G>A (p.Arg823Gln) rs572533256 0.00001
NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly) rs772155267 0.00001
NM_005732.4(RAD50):c.2517dup (p.Asp840fs) rs786201897 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.2636C>G (p.Thr879Ser) rs876660806 0.00001
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter) rs1554099320 0.00001
NM_005732.4(RAD50):c.2923-7T>C rs1329253830 0.00001
NM_005732.4(RAD50):c.3037-6C>T rs1209508205 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005732.4(RAD50):c.3061A>G (p.Asn1021Asp) rs786202957 0.00001
NM_005732.4(RAD50):c.3068C>T (p.Thr1023Ile) rs755608245 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.3191T>C (p.Ile1064Thr) rs780264599 0.00001
NM_005732.4(RAD50):c.3193G>A (p.Asp1065Asn) rs749322677 0.00001
NM_005732.4(RAD50):c.3206G>T (p.Arg1069Ile) rs769003601 0.00001
NM_005732.4(RAD50):c.3389+5G>A rs786202582 0.00001
NM_005732.4(RAD50):c.344A>G (p.Glu115Gly) rs749567681 0.00001
NM_005732.4(RAD50):c.349G>T (p.Val117Phe) rs1237021808 0.00001
NM_005732.4(RAD50):c.353T>C (p.Ile118Thr) rs200472836 0.00001
NM_005732.4(RAD50):c.366G>C (p.Lys122Asn) rs587782384 0.00001
NM_005732.4(RAD50):c.413G>A (p.Arg138Gln) rs587781571 0.00001
NM_005732.4(RAD50):c.428C>A (p.Ser143Tyr) rs754302772 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.578G>A (p.Arg193Gln) rs776046799 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225 0.00001
NM_005732.4(RAD50):c.715G>C (p.Glu239Gln) rs773887771 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005732.4(RAD50):c.757-12C>A rs1427073290 0.00001
NM_005732.4(RAD50):c.790A>G (p.Lys264Glu) rs750693854 0.00001
NM_005732.4(RAD50):c.885+5G>A rs200264387 0.00001
NM_005732.4(RAD50):c.886-11G>T rs562817115 0.00001
NM_005732.4(RAD50):c.915T>C (p.Asn305=) rs759379314 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005732.4(RAD50):c.977A>G (p.His326Arg) rs1379211444 0.00001
NM_005732.4(RAD50):c.1051+1G>A rs2149840720
NM_005732.4(RAD50):c.1052-1G>A rs1750640480
NM_005732.4(RAD50):c.1052dup
NM_005732.4(RAD50):c.1075C>T (p.Arg359Cys) rs1750641105
NM_005732.4(RAD50):c.1076G>A (p.Arg359His) rs1184353235
NM_005732.4(RAD50):c.1088A>G (p.His363Arg) rs143654104
NM_005732.4(RAD50):c.1106C>T (p.Ser369Leu) rs947142407
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1115A>C (p.Gln372Pro) rs375070140
NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile) rs786202509
NM_005732.4(RAD50):c.1143T>C (p.Asp381=) rs1750643562
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1190A>T (p.His397Leu) rs562153754
NM_005732.4(RAD50):c.119C>T (p.Ala40Val) rs1554096657
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs) rs1750646869
NM_005732.4(RAD50):c.1246-11T>C rs746985455
NM_005732.4(RAD50):c.1246-8G>T rs776650264
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.1262_1265del (p.Lys421fs)
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1284G>A (p.Gln428=) rs786201152
NM_005732.4(RAD50):c.1287A>G (p.Ile429Met) rs1554098314
NM_005732.4(RAD50):c.129+37C>G
NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs)
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter) rs758641567
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) rs587780150
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter) rs1750077980
NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1631_1635+1del rs1235022794
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.1692C>G (p.Thr564=) rs876660850
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.172C>A (p.Pro58Thr)
NM_005732.4(RAD50):c.1774del (p.Asp592fs) rs757261714
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)
NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) rs876658686
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.1969+1G>A rs587782078
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2050dup (p.Cys684fs)
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) rs1750779319
NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys) rs769143998
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2281A>G (p.Ile761Val) rs1750921919
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala) rs762093973
NM_005732.4(RAD50):c.2395C>T (p.Gln799Ter) rs876658749
NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.2452G>A (p.Gly818Arg)
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2524G>A (p.Val842Ile) rs2149847342
NM_005732.4(RAD50):c.260G>T (p.Arg87Leu) rs374561375
NM_005732.4(RAD50):c.2620A>T (p.Lys874Ter) rs2149847772
NM_005732.4(RAD50):c.2725A>T (p.Lys909Ter)
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2836G>A (p.Asp946Asn) rs766657227
NM_005732.4(RAD50):c.287T>C (p.Val96Ala) rs1554097576
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) rs1561647410
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) rs1060501942
NM_005732.4(RAD50):c.2944A>T (p.Lys982Ter) rs1581004859
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) rs587780154
NM_005732.4(RAD50):c.3001A>G (p.Met1001Val) rs876660064
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.304_307del (p.Cys102fs)
NM_005732.4(RAD50):c.3055C>G (p.Gln1019Glu)
NM_005732.4(RAD50):c.3058del (p.Asp1020fs)
NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs)
NM_005732.4(RAD50):c.3070T>G (p.Leu1024Val) rs876659174
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer) rs753950483
NM_005732.4(RAD50):c.3160_3164+8del rs1751171297
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005732.4(RAD50):c.3164+22_3164+25dup rs536987915
NM_005732.4(RAD50):c.3165-2A>G
NM_005732.4(RAD50):c.3205A>G (p.Arg1069Gly) rs1020925262
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3270A>C (p.Lys1090Asn) rs1554099872
NM_005732.4(RAD50):c.3311A>G (p.Tyr1104Cys) rs1561650887
NM_005732.4(RAD50):c.3353del (p.Asn1118fs) rs1554099888
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.3389+1G>A rs762648843
NM_005732.4(RAD50):c.351C>A (p.Val117=) rs878854800
NM_005732.4(RAD50):c.363A>G (p.Thr121=) rs1750390315
NM_005732.4(RAD50):c.366-13T>A rs774557401
NM_005732.4(RAD50):c.36G>A (p.Val12=) rs1580974379
NM_005732.4(RAD50):c.415G>A (p.Glu139Lys) rs876660467
NM_005732.4(RAD50):c.419T>A (p.Met140Lys) rs876660468
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.467T>G (p.Phe156Cys) rs1405344791
NM_005732.4(RAD50):c.475C>T (p.Gln159Ter)
NM_005732.4(RAD50):c.494C>G (p.Pro165Arg) rs104895044
NM_005732.4(RAD50):c.494C>T (p.Pro165Leu) rs104895044
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.548C>T (p.Thr183Ile) rs1554097784
NM_005732.4(RAD50):c.551+1G>C
NM_005732.4(RAD50):c.551+2T>C rs1580987375
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) rs1580987798
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005732.4(RAD50):c.775G>C (p.Glu259Gln) rs1750614444
NM_005732.4(RAD50):c.77C>G (p.Thr26Ser)
NM_005732.4(RAD50):c.81C>A (p.Phe27Leu) rs868228536
NM_005732.4(RAD50):c.829A>G (p.Ser277Gly) rs1580991879
NM_005732.4(RAD50):c.833G>A (p.Arg278Gln) rs587782307
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) rs863224744

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