ClinVar Miner

List of variants in gene RAD50 studied for not provided

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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.551+123T>C rs2522403 0.34048
NM_005732.4(RAD50):c.1246-136T>C rs2706362 0.33292
NM_005732.4(RAD50):c.365+227G>C rs2522414 0.32073
NM_005732.4(RAD50):c.3165-335C>T rs7449456 0.23652
NM_005732.4(RAD50):c.3164+174T>C rs2301713 0.23190
NM_005732.4(RAD50):c.1246-149A>C rs56798121 0.18026
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_005732.4(RAD50):c.3165-252A>G rs17772583 0.17894
NM_005732.4(RAD50):c.1793+313T>C rs10463893 0.16617
NM_005732.4(RAD50):c.2524+166T>G rs12187537 0.15819
NM_005732.4(RAD50):c.1453-118G>A rs2706364 0.13006
NM_005732.4(RAD50):c.1246-210A>G rs2706360 0.12814
NM_005732.4(RAD50):c.2525-157G>A rs2522391 0.07447
NM_005732.4(RAD50):c.3036+242T>C rs2706378 0.07447
NM_005732.4(RAD50):c.2398-115A>G rs2706377 0.07442
NM_005732.4(RAD50):c.3036+33C>T rs10054336 0.05656
NM_005732.4(RAD50):c.3389+154A>G rs140257448 0.05188
NM_005732.4(RAD50):c.366-295T>C rs13360175 0.05180
NM_005732.4(RAD50):c.1453-278C>A rs17166060 0.04384
NM_005732.4(RAD50):c.1453-203C>G rs10520117 0.04382
NM_005732.4(RAD50):c.1969+30A>C rs2522390 0.03078
NM_005732.4(RAD50):c.3164+140A>G rs74426446 0.02953
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.3389+96T>C rs59635188 0.02658
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_005732.4(RAD50):c.2207+296G>A rs115976537 0.01975
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_005732.4(RAD50):c.2718+131C>T rs112364014 0.01774
NM_005732.4(RAD50):c.1970-65G>A rs148383531 0.01409
NM_005732.4(RAD50):c.1793+22T>C rs10520116 0.01080
NM_005732.4(RAD50):c.130-265A>G rs115198557 0.00903
NM_005732.4(RAD50):c.1245+23T>C rs115100130 0.00716
NM_005732.4(RAD50):c.1246-42T>A rs114648433 0.00706
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.1794-193A>C rs73259670 0.00440
NM_005732.4(RAD50):c.757-63C>T rs74861356 0.00436
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_005732.4(RAD50):c.3164+49G>C rs143829407 0.00361
NM_005732.4(RAD50):c.2719-31A>G rs104895047 0.00344
NM_005732.4(RAD50):c.3036+151C>T rs546261138 0.00308
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_005732.4(RAD50):c.1051+58A>T rs77502957 0.00256
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_005732.4(RAD50):c.3164+35C>T rs104895048 0.00156
NM_005732.4(RAD50):c.366-163T>C rs104895043 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.671G>A (p.Arg224His) rs28903088 0.00065
NM_005732.4(RAD50):c.3122A>G (p.His1041Arg) rs149577978 0.00064
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 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.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_005732.4(RAD50):c.259C>T (p.Arg87Cys) rs143802516 0.00014
NM_005732.4(RAD50):c.1554G>C (p.Leu518=) rs148214481 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.1911T>A (p.Asp637Glu) rs144749616 0.00007
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 0.00006
NM_005732.4(RAD50):c.2173C>T (p.Arg725Trp) rs369560280 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.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005732.4(RAD50):c.1759A>C (p.Ile587Leu) rs138796822 0.00004
NM_005732.4(RAD50):c.205G>A (p.Asp69Asn) rs370769989 0.00004
NM_005732.4(RAD50):c.281T>C (p.Ile94Thr) rs768127412 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.1686A>G (p.Glu562=) rs751250564 0.00003
NM_005732.4(RAD50):c.1970-7A>C rs370034340 0.00003
NM_005732.4(RAD50):c.2619G>A (p.Glu873=) rs751662539 0.00003
NM_005732.4(RAD50):c.2891A>T (p.Tyr964Phe) rs377466333 0.00003
NM_005732.4(RAD50):c.39G>A (p.Arg13=) rs779005784 0.00003
NM_005732.4(RAD50):c.785T>G (p.Leu262Arg) rs201728859 0.00003
NM_005732.4(RAD50):c.1497C>G (p.Thr499=) rs1023524138 0.00002
NM_005732.4(RAD50):c.1540T>C (p.Leu514=) rs199702045 0.00002
NM_005732.4(RAD50):c.2113C>T (p.Leu705=) rs779776271 0.00002
NM_005732.4(RAD50):c.257T>G (p.Phe86Cys) rs767424884 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.1037T>G (p.Leu346Arg) rs762938709 0.00001
NM_005732.4(RAD50):c.129+5G>A rs587781409 0.00001
NM_005732.4(RAD50):c.137T>A (p.Ile46Asn) rs587780149 0.00001
NM_005732.4(RAD50):c.1513A>G (p.Ile505Val) rs193921012 0.00001
NM_005732.4(RAD50):c.1766A>G (p.Gln589Arg) rs1338200174 0.00001
NM_005732.4(RAD50):c.1924T>G (p.Leu642Val) rs201132221 0.00001
NM_005732.4(RAD50):c.2013T>C (p.Thr671=) rs1345954274 0.00001
NM_005732.4(RAD50):c.2383A>G (p.Met795Val) rs876660841 0.00001
NM_005732.4(RAD50):c.2492A>G (p.Glu831Gly) rs772155267 0.00001
NM_005732.4(RAD50):c.2524+3A>T rs1339706998 0.00001
NM_005732.4(RAD50):c.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.255A>G (p.Gln85=) rs761802581 0.00001
NM_005732.4(RAD50):c.2563G>T (p.Asp855Tyr) rs144911328 0.00001
NM_005732.4(RAD50):c.2651G>A (p.Arg884His) rs558302979 0.00001
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) rs397507177 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 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.3288A>G (p.Gln1096=) rs878854798 0.00001
NM_005732.4(RAD50):c.3310T>C (p.Tyr1104His) rs147545169 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
GRCh37/hg19 5q31.1(chr5:131922768-131924818)x1
NM_005732.4(RAD50):c.-284C>A rs104895041
NM_005732.4(RAD50):c.1005A>G (p.Glu335=) rs747098394
NM_005732.4(RAD50):c.1052-1G>T rs1750640480
NM_005732.4(RAD50):c.1052-6del rs201800554
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1117T>G (p.Ser373Ala) rs587780146
NM_005732.4(RAD50):c.1150G>C (p.Glu384Gln) rs1316248605
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.1255G>A (p.Ala419Thr) rs786201357
NM_005732.4(RAD50):c.1280_1283del (p.Lys427fs)
NM_005732.4(RAD50):c.129+184T>C rs2548986
NM_005732.4(RAD50):c.129+184T>G rs2548986
NM_005732.4(RAD50):c.129+236C>A rs73257757
NM_005732.4(RAD50):c.1328T>C (p.Ile443Thr) rs587780148
NM_005732.4(RAD50):c.1405G>T (p.Gly469Ter) rs1561640129
NM_005732.4(RAD50):c.1453-131del rs138231496
NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1636-9del rs762814289
NM_005732.4(RAD50):c.1679G>A (p.Ser560Asn) rs763571038
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1815G>C (p.Glu605Asp) rs769987307
NM_005732.4(RAD50):c.1838A>G (p.Asn613Ser) rs587780151
NM_005732.4(RAD50):c.1866G>A (p.Leu622=)
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1969+232G>A rs143331722
NM_005732.4(RAD50):c.213+203T>C
NM_005732.4(RAD50):c.213+73A>C rs104895042
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2207+203dup rs34713748
NM_005732.4(RAD50):c.2208-9T>C rs2149846839
NM_005732.4(RAD50):c.2213G>A (p.Ser738Asn) rs587780152
NM_005732.4(RAD50):c.236G>C (p.Arg79Thr) rs1750385905
NM_005732.4(RAD50):c.2524+236del rs879833449
NM_005732.4(RAD50):c.2589A>G (p.Leu863=) rs1260371384
NM_005732.4(RAD50):c.2719-178G>A rs2522394
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.288G>C (p.Val96=) rs876658184
NM_005732.4(RAD50):c.2923-5dup rs2066742
NM_005732.4(RAD50):c.2966_2969del (p.Glu989fs)
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.3027T>C (p.Asp1009=) rs773757483
NM_005732.4(RAD50):c.3036+3A>G
NM_005732.4(RAD50):c.3064C>A (p.Leu1022Ile)
NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) rs1561650088
NM_005732.4(RAD50):c.3164+250= rs4705961
NM_005732.4(RAD50):c.3165-155A>T rs104895049
NM_005732.4(RAD50):c.3177G>A (p.Lys1059=) rs786202762
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3316G>A (p.Glu1106Lys) rs1581009525
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.365+7G>A rs1554097580
NM_005732.4(RAD50):c.432T>G (p.Leu144=) rs181804987
NM_005732.4(RAD50):c.494C>A (p.Pro165His) rs104895044
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.545C>A (p.Ala182Glu) rs763822670
NM_005732.4(RAD50):c.55G>T (p.Asp19Tyr) rs770566177
NM_005732.4(RAD50):c.579G>A (p.Arg193=) rs1554097802
NM_005732.4(RAD50):c.659C>T (p.Ala220Val) rs2149837999
NM_005732.4(RAD50):c.660T>C (p.Ala220=)
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
NM_005732.4(RAD50):c.719T>C (p.Ile240Thr)
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005732.4(RAD50):c.833G>T (p.Arg278Leu) rs587782307
NM_005732.4(RAD50):c.983A>C (p.Glu328Ala)

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