ClinVar Miner

List of variants in gene RAD50 reported as uncertain significance for Nijmegen breakage syndrome-like disorder

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Total variants: 124
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
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.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.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.2177G>A (p.Arg726His) rs28903092 0.00025
NM_005732.4(RAD50):c.1336A>G (p.Lys446Glu) rs149217423 0.00024
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.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.1556G>T (p.Arg519Leu) rs140333740 0.00006
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val) rs201120953 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.1192A>G (p.Lys398Glu) rs756173890 0.00004
NM_005732.4(RAD50):c.1457G>A (p.Arg486His) rs776949511 0.00004
NM_005732.4(RAD50):c.1603C>T (p.Arg535Cys) rs762188153 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.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.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.217G>A (p.Ala73Thr) rs371122101 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.673G>A (p.Asp225Asn) rs587780159 0.00002
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg) rs375070140 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.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.1876G>A (p.Glu626Lys) rs763432574 0.00001
NM_005732.4(RAD50):c.214G>A (p.Val72Ile) rs118029772 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.2530A>C (p.Ser844Arg) rs373817937 0.00001
NM_005732.4(RAD50):c.2636C>G (p.Thr879Ser) rs876660806 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.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.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.578G>A (p.Arg193Gln) rs776046799 0.00001
NM_005732.4(RAD50):c.586C>T (p.Arg196Cys) rs769853458 0.00001
NM_005732.4(RAD50):c.715G>C (p.Glu239Gln) rs773887771 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.915T>C (p.Asn305=) rs759379314 0.00001
NM_005732.4(RAD50):c.977A>G (p.His326Arg) rs1379211444 0.00001
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.1115A>C (p.Gln372Pro) rs375070140
NM_005732.4(RAD50):c.1132C>A (p.Leu378Ile) rs786202509
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.1287A>G (p.Ile429Met) rs1554098314
NM_005732.4(RAD50):c.129+37C>G
NM_005732.4(RAD50):c.1580A>G (p.Gln527Arg) rs1554098420
NM_005732.4(RAD50):c.1677C>G (p.His559Gln) rs142619269
NM_005732.4(RAD50):c.172C>A (p.Pro58Thr)
NM_005732.4(RAD50):c.1948G>A (p.Glu650Lys) rs876658686
NM_005732.4(RAD50):c.2108C>G (p.Ser703Cys) rs769143998
NM_005732.4(RAD50):c.2281A>G (p.Ile761Val) rs1750921919
NM_005732.4(RAD50):c.2317A>G (p.Thr773Ala) rs762093973
NM_005732.4(RAD50):c.2431CAA[1] (p.Gln812del) rs1554099147
NM_005732.4(RAD50):c.2452G>A (p.Gly818Arg)
NM_005732.4(RAD50):c.260G>T (p.Arg87Leu) rs374561375
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.3001A>G (p.Met1001Val) rs876660064
NM_005732.4(RAD50):c.3055C>G (p.Gln1019Glu)
NM_005732.4(RAD50):c.3070T>G (p.Leu1024Val) rs876659174
NM_005732.4(RAD50):c.3205A>G (p.Arg1069Gly) rs1020925262
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.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.467T>G (p.Phe156Cys) rs1405344791
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.548C>T (p.Thr183Ile) rs1554097784
NM_005732.4(RAD50):c.670C>T (p.Arg224Cys) rs753136372
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.973T>C (p.Cys325Arg) rs863224744

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