ClinVar Miner

List of variants in gene RAD50 reported as pathogenic

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Gene type:
ClinVar version:
Total variants: 138
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HGVS dbSNP
NC_000005.9:g.(?_131892616)_(131893145_?)del
NC_000005.9:g.(?_131911459)_(131911630_?)del
NC_000005.9:g.(?_131911469)_(131911620_?)del
NM_005732.3(RAD50):c.129+1delG
NM_005732.3(RAD50):c.1970-1_1972dup rs1554098661
NM_005732.3(RAD50):c.2156dupT (p.Glu723Glyfs*5) rs1554098706
NM_005732.4(RAD50):c.1002_1005del (p.Lys334fs) rs1554098203
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593
NM_005732.4(RAD50):c.1106C>G (p.Ser369Ter)
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1168_1169del (p.Glu390fs) rs876660160
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1174del (p.Gln392fs) rs876660039
NM_005732.4(RAD50):c.1188dup (p.His397fs) rs770082735
NM_005732.4(RAD50):c.1194del (p.Lys398fs) rs780230934
NM_005732.4(RAD50):c.1200_1201GA[3] (p.Glu402fs) rs786203655
NM_005732.4(RAD50):c.1200_1201GA[6] (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1201A>T (p.Arg401Ter) rs199867309
NM_005732.4(RAD50):c.1213G>T (p.Glu405Ter) rs1554098262
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259
NM_005732.4(RAD50):c.1245+1G>A rs1561639636
NM_005732.4(RAD50):c.1253_1254del (p.Phe418fs) rs1060501954
NM_005732.4(RAD50):c.1268_1269CT[1] (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1271_1272del (p.Leu424fs) rs769047012
NM_005732.4(RAD50):c.1291_1295del (p.Glu431fs)
NM_005732.4(RAD50):c.1293_1299GATAAGA[1] (p.Asp434fs) rs587780147
NM_005732.4(RAD50):c.1293_1299GATAAGA[3] (p.Lys436delinsArgTer) rs587780147
NM_005732.4(RAD50):c.1295_1299del (p.Ile432fs) rs1554098316
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter)
NM_005732.4(RAD50):c.1366G>T (p.Glu456Ter) rs876659132
NM_005732.4(RAD50):c.1376del (p.Asn459fs) rs1554098326
NM_005732.4(RAD50):c.1391dup (p.Leu464fs)
NM_005732.4(RAD50):c.1393C>T (p.Gln465Ter) rs587780150
NM_005732.4(RAD50):c.1432_1433dup (p.Asp478fs) rs1554098333
NM_005732.4(RAD50):c.1544_1547del (p.Asp515fs) rs786203151
NM_005732.4(RAD50):c.154del (p.Ile52fs) rs876659837
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1633A>T (p.Lys545Ter) rs1253904315
NM_005732.4(RAD50):c.1648_1651dup (p.Gln551fs) rs1561641010
NM_005732.4(RAD50):c.1704del (p.Tyr569fs)
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1723C>T (p.Gln575Ter)
NM_005732.4(RAD50):c.1736G>A (p.Trp579Ter) rs1554098484
NM_005732.4(RAD50):c.1765C>T (p.Gln589Ter) rs1561641132
NM_005732.4(RAD50):c.1826dup (p.Asn609fs) rs1554098584
NM_005732.4(RAD50):c.1847_1850AAAG[1] (p.Glu619fs) rs1554098588
NM_005732.4(RAD50):c.1849_1853del (p.Arg617fs) rs1561642039
NM_005732.4(RAD50):c.1850del (p.Arg617fs) rs1554098589
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.1958C>A (p.Ser653Ter) rs587781904
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2014C>T (p.Gln672Ter) rs142947311
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2054dup (p.Arg686fs) rs1554098683
NM_005732.4(RAD50):c.2086G>T (p.Glu696Ter) rs1388500583
NM_005732.4(RAD50):c.2116C>T (p.Arg706Ter) rs772468452
NM_005732.4(RAD50):c.2165_2166insT (p.Lys722fs) rs587781454
NM_005732.4(RAD50):c.2165del (p.Lys722fs) rs397507178
NM_005732.4(RAD50):c.2165dup (p.Glu723fs) rs397507178
NM_005732.4(RAD50):c.2190_2191delinsCT (p.Gly731Ter)
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2227A>T (p.Lys743Ter) rs1554099081
NM_005732.4(RAD50):c.2260_2266del (p.Leu754fs) rs864622393
NM_005732.4(RAD50):c.2263C>T (p.Gln755Ter) rs765975825
NM_005732.4(RAD50):c.2284C>T (p.Gln762Ter) rs876660797
NM_005732.4(RAD50):c.2299_2311del (p.Asp767fs)
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2361del (p.Cys788fs) rs1554099112
NM_005732.4(RAD50):c.2386G>T (p.Glu796Ter)
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2498_2499del (p.Gln833fs) rs587782895
NM_005732.4(RAD50):c.2516T>A (p.Leu839Ter) rs776395588
NM_005732.4(RAD50):c.2517dup (p.Asp840fs) rs786201897
NM_005732.4(RAD50):c.2534dup (p.Ile846fs) rs1281337925
NM_005732.4(RAD50):c.2569C>T (p.Gln857Ter) rs1060501973
NM_005732.4(RAD50):c.2605G>T (p.Glu869Ter) rs764449224
NM_005732.4(RAD50):c.2668C>T (p.Gln890Ter)
NM_005732.4(RAD50):c.2707del (p.Arg903fs) rs863224509
NM_005732.4(RAD50):c.2734del (p.Gln911_Val912insTer) rs1297931573
NM_005732.4(RAD50):c.2744dup (p.Leu915fs) rs876658976
NM_005732.4(RAD50):c.2770C>T (p.Gln924Ter) rs1554099320
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2792del (p.Asn931fs)
NM_005732.4(RAD50):c.2801del (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2821C>T (p.Gln941Ter) rs397507177
NM_005732.4(RAD50):c.282del (p.Ile94fs) rs1561634357
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) rs1561647410
NM_005732.4(RAD50):c.2899del (p.Asp967fs) rs1554099372
NM_005732.4(RAD50):c.2929G>T (p.Glu977Ter) rs1554099388
NM_005732.4(RAD50):c.2929_2932del (p.Glu977fs) rs587780153
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs) rs768522804
NM_005732.4(RAD50):c.2938_2942del (p.Glu979_Leu980insTer) rs1060501942
NM_005732.4(RAD50):c.2956C>T (p.Gln986Ter) rs1561647533
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.2980_2984AAAGA[1] (p.Glu995fs) rs1060501949
NM_005732.4(RAD50):c.2981_2982del (p.Lys994fs) rs1561647559
NM_005732.4(RAD50):c.2983_2986del (p.Glu995fs) rs587780154
NM_005732.4(RAD50):c.3028dup (p.Thr1010fs) rs878854795
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776
NM_005732.4(RAD50):c.3067_3070del (p.Leu1022_Thr1023insTer) rs1554099781
NM_005732.4(RAD50):c.3071del (p.Thr1023_Leu1024insTer) rs753950483
NM_005732.4(RAD50):c.3103G>T (p.Glu1035Ter) rs1561650088
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.3229C>T (p.Arg1077Ter) rs368980595
NM_005732.4(RAD50):c.3266_3273delinsT (p.Lys1089fs) rs878854797
NM_005732.4(RAD50):c.326_329del (p.Thr109fs) rs587780155
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628
NM_005732.4(RAD50):c.3277dup (p.Arg1093fs) rs1554099874
NM_005732.4(RAD50):c.3353del (p.Asn1118fs) rs1554099888
NM_005732.4(RAD50):c.3366_3369TATT[1] (p.Tyr1124fs) rs1060501923
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.354del (p.Thr119fs) rs587781721
NM_005732.4(RAD50):c.379_383del (p.Val127fs) rs1554097758
NM_005732.4(RAD50):c.393_394insTT (p.Lys132fs) rs1458900761
NM_005732.4(RAD50):c.393dup (p.Lys132Ter) rs1458900761
NM_005732.4(RAD50):c.397_398TG[1] (p.Ala134fs) rs587781355
NM_005732.4(RAD50):c.3G>A (p.Met1Ile) rs377260382
NM_005732.4(RAD50):c.410_411del (p.Asp137fs)
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.471T>A (p.Cys157Ter)
NM_005732.4(RAD50):c.474_483delinsAA (p.His158fs) rs1064792948
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.643C>T (p.Gln215Ter) rs587781576
NM_005732.4(RAD50):c.648del (p.Gln215_Tyr216insTer) rs1554097816
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707
NM_005732.4(RAD50):c.72del (p.Ile25fs) rs1554096644
NM_005732.4(RAD50):c.762_765dup (p.Lys256fs)
NM_005732.4(RAD50):c.832C>T (p.Arg278Ter) rs766315644
NM_005732.4(RAD50):c.904G>T (p.Glu302Ter) rs587782090
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625
NM_005732.4(RAD50):c.965del (p.Leu322fs) rs786203403
Single allele

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