ClinVar Miner

List of variants in gene RAD50 reported by Baylor Genetics

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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_005732.4(RAD50):c.1154G>A (p.Arg385His) rs150030986 0.00030
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
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.265G>A (p.Val89Ile) rs151109830 0.00009
NM_005732.4(RAD50):c.3327T>G (p.Ile1109Met) rs587781940 0.00008
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.610A>G (p.Lys204Glu) rs202197835 0.00006
NM_005732.4(RAD50):c.2750C>T (p.Thr917Ile) rs562172843 0.00005
NM_005732.4(RAD50):c.1603C>T (p.Arg535Cys) rs762188153 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.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485 0.00003
NM_005732.4(RAD50):c.1720A>C (p.Lys574Gln) rs779597467 0.00002
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311 0.00002
NM_005732.4(RAD50):c.2780A>C (p.Glu927Ala) rs748077241 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.832C>T (p.Arg278Ter) rs766315644 0.00002
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.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.1406G>C (p.Gly469Ala) rs55653181 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.1958C>A (p.Ser653Ter) rs587781904 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.2273A>G (p.Asn758Ser) rs147568421 0.00001
NM_005732.4(RAD50):c.2457A>G (p.Ile819Met) rs143554330 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.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.3193G>A (p.Asp1065Asn) rs749322677 0.00001
NM_005732.4(RAD50):c.3389+5G>A rs786202582 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.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.790A>G (p.Lys264Glu) rs750693854 0.00001
NM_005732.4(RAD50):c.885+5G>A rs200264387 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.1114C>T (p.Gln372Ter) rs104895046
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.1238_1241del (p.Gln413fs) rs1750646869
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.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.139G>T (p.Glu47Ter) rs1750077980
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.172C>A (p.Pro58Thr)
NM_005732.4(RAD50):c.1774del (p.Asp592fs) rs757261714
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2050dup (p.Cys684fs)
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.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.260G>T (p.Arg87Leu) rs374561375
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.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.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.3165-2A>G
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
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.415G>A (p.Glu139Lys) rs876660467
NM_005732.4(RAD50):c.419T>A (p.Met140Lys) rs876660468
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.551+1G>C
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.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.833G>A (p.Arg278Gln) rs587782307
NM_005732.4(RAD50):c.973T>C (p.Cys325Arg) rs863224744

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