ClinVar Miner

List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as uncertain significance for Hereditary cancer-predisposing syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 264
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3508G>A (p.Asp1170Asn) rs397507179 0.00010
NM_005732.4(RAD50):c.3769T>G (p.Ser1257Ala) rs786201205 0.00008
NM_005732.4(RAD50):c.3496C>T (p.Arg1166Trp) rs587782577 0.00005
NM_005732.4(RAD50):c.3420G>A (p.Met1140Ile) rs748377319 0.00004
NM_005732.4(RAD50):c.3716G>A (p.Arg1239Gln) rs35861031 0.00004
NM_005732.4(RAD50):c.3475+5G>A rs1288724170 0.00003
NM_005732.4(RAD50):c.3514A>T (p.Asn1172Tyr) rs757481515 0.00003
NM_005732.4(RAD50):c.3467G>A (p.Arg1156His) rs587780156 0.00002
NM_005732.4(RAD50):c.3697C>A (p.Pro1233Thr) rs768985477 0.00002
NM_005732.4(RAD50):c.3725T>C (p.Ile1242Thr) rs773179252 0.00002
NM_005732.4(RAD50):c.3431A>G (p.Asn1144Ser) rs376109008 0.00001
NM_005732.4(RAD50):c.3437T>C (p.Ile1146Thr) rs1554100862 0.00001
NM_005732.4(RAD50):c.3443G>A (p.Arg1148His) rs587782637 0.00001
NM_005732.4(RAD50):c.3466C>T (p.Arg1156Cys) rs535261113 0.00001
NM_005732.4(RAD50):c.3493A>G (p.Ile1165Val) rs765807869 0.00001
NM_005732.4(RAD50):c.3497G>T (p.Arg1166Leu) rs763145238 0.00001
NM_005732.4(RAD50):c.3503A>C (p.Asp1168Ala) rs764131107 0.00001
NM_005732.4(RAD50):c.3538C>T (p.Arg1180Trp) rs1333645178 0.00001
NM_005732.4(RAD50):c.3539G>A (p.Arg1180Gln) rs369788398 0.00001
NM_005732.4(RAD50):c.3554G>A (p.Arg1185Gln) rs747603489 0.00001
NM_005732.4(RAD50):c.3590T>G (p.Met1197Arg) rs751641472 0.00001
NM_005732.4(RAD50):c.3593G>A (p.Arg1198Gln) rs373407069 0.00001
NM_005732.4(RAD50):c.3601T>C (p.Cys1201Arg) rs377415802 0.00001
NM_005732.4(RAD50):c.3618G>T (p.Lys1206Asn) rs1321474867 0.00001
NM_005732.4(RAD50):c.3632T>A (p.Leu1211His) rs1274354295 0.00001
NM_005732.4(RAD50):c.3640C>T (p.Arg1214Cys) rs546479838 0.00001
NM_005732.4(RAD50):c.3671A>G (p.Asn1224Ser) rs756860186 0.00001
NM_005732.4(RAD50):c.3682A>G (p.Ile1228Val) rs876660831 0.00001
NM_005732.4(RAD50):c.3689T>G (p.Leu1230Trp) rs876658450 0.00001
NM_005732.4(RAD50):c.3707A>G (p.Asn1236Ser) rs1417493313 0.00001
NM_005732.4(RAD50):c.3728A>T (p.Glu1243Val) rs1554101200 0.00001
NM_005732.4(RAD50):c.3740A>C (p.His1247Pro) rs1397349878 0.00001
NM_005732.4(RAD50):c.3752+3A>G rs864622704 0.00001
NM_005732.4(RAD50):c.3752+5G>T rs1243458192 0.00001
NM_005732.4(RAD50):c.3753-4G>T rs775426160 0.00001
NM_005732.4(RAD50):c.3766C>T (p.Arg1256Cys) rs561655417 0.00001
NM_005732.4(RAD50):c.3767G>A (p.Arg1256His) rs786203127 0.00001
NC_000005.10:g.132640805AGTA[3]
NM_005732.4(RAD50):c.3390-3C>T rs1581020162
NM_005732.4(RAD50):c.3390-5T>A
NM_005732.4(RAD50):c.3390-5T>G
NM_005732.4(RAD50):c.3390-9C>G
NM_005732.4(RAD50):c.3390A>G (p.Gln1130=) rs2149862704
NM_005732.4(RAD50):c.3391G>A (p.Ala1131Thr) rs2149862705
NM_005732.4(RAD50):c.3392C>A (p.Ala1131Glu) rs1751595703
NM_005732.4(RAD50):c.3392C>G (p.Ala1131Gly) rs1751595703
NM_005732.4(RAD50):c.3394A>G (p.Ile1132Val) rs867973104
NM_005732.4(RAD50):c.3397A>G (p.Met1133Val) rs1751595826
NM_005732.4(RAD50):c.3400A>C (p.Lys1134Gln)
NM_005732.4(RAD50):c.3408C>G (p.His1136Gln)
NM_005732.4(RAD50):c.3409A>C (p.Ser1137Arg) rs2149862711
NM_005732.4(RAD50):c.3410G>A (p.Ser1137Asn) rs1554100855
NM_005732.4(RAD50):c.3410G>T (p.Ser1137Ile) rs1554100855
NM_005732.4(RAD50):c.3412A>C (p.Met1138Leu) rs1554100856
NM_005732.4(RAD50):c.3413T>C (p.Met1138Thr) rs2149862716
NM_005732.4(RAD50):c.3414G>A (p.Met1138Ile) rs1554100857
NM_005732.4(RAD50):c.3421GAA[1] (p.Glu1142del) rs1554100859
NM_005732.4(RAD50):c.3425A>G (p.Glu1142Gly) rs2149862723
NM_005732.4(RAD50):c.3426A>C (p.Glu1142Asp) rs1554100860
NM_005732.4(RAD50):c.3427A>G (p.Ile1143Val) rs1554100861
NM_005732.4(RAD50):c.3427A>T (p.Ile1143Phe)
NM_005732.4(RAD50):c.3428T>A (p.Ile1143Asn)
NM_005732.4(RAD50):c.3430A>G (p.Asn1144Asp)
NM_005732.4(RAD50):c.3435A>C (p.Lys1145Asn) rs1581020200
NM_005732.4(RAD50):c.3439A>G (p.Ile1147Val) rs1581020219
NM_005732.4(RAD50):c.3440T>C (p.Ile1147Thr) rs587781322
NM_005732.4(RAD50):c.3442C>A (p.Arg1148Ser) rs746841895
NM_005732.4(RAD50):c.3442C>G (p.Arg1148Gly) rs746841895
NM_005732.4(RAD50):c.3442C>T (p.Arg1148Cys) rs746841895
NM_005732.4(RAD50):c.3445G>A (p.Asp1149Asn) rs1391832085
NM_005732.4(RAD50):c.3446A>G (p.Asp1149Gly)
NM_005732.4(RAD50):c.3446A>T (p.Asp1149Val) rs1453591243
NM_005732.4(RAD50):c.3449T>A (p.Leu1150Gln)
NM_005732.4(RAD50):c.3452G>T (p.Trp1151Leu)
NM_005732.4(RAD50):c.3453G>C (p.Trp1151Cys)
NM_005732.4(RAD50):c.3455G>T (p.Arg1152Leu) rs144253015
NM_005732.4(RAD50):c.3458G>A (p.Ser1153Asn) rs1411967321
NM_005732.4(RAD50):c.3460A>C (p.Thr1154Pro) rs1554100867
NM_005732.4(RAD50):c.3461C>G (p.Thr1154Ser)
NM_005732.4(RAD50):c.3461C>T (p.Thr1154Ile) rs1581020275
NM_005732.4(RAD50):c.3463T>A (p.Tyr1155Asn)
NM_005732.4(RAD50):c.3463T>G (p.Tyr1155Asp) rs762302203
NM_005732.4(RAD50):c.3464A>G (p.Tyr1155Cys) rs1554100868
NM_005732.4(RAD50):c.3467G>T (p.Arg1156Leu) rs587780156
NM_005732.4(RAD50):c.3474A>C (p.Gln1158His) rs1751599188
NM_005732.4(RAD50):c.3475+4_3475+15del rs1751599225
NM_005732.4(RAD50):c.3476-2A>G rs2149863421
NM_005732.4(RAD50):c.3476A>G (p.Asp1159Gly)
NM_005732.4(RAD50):c.3478A>T (p.Ile1160Phe) rs1581021011
NM_005732.4(RAD50):c.3479T>C (p.Ile1160Thr) rs1751628367
NM_005732.4(RAD50):c.3479T>G (p.Ile1160Ser)
NM_005732.4(RAD50):c.3481G>A (p.Glu1161Lys) rs1554100941
NM_005732.4(RAD50):c.3482A>G (p.Glu1161Gly) rs1751628523
NM_005732.4(RAD50):c.3484T>C (p.Tyr1162His)
NM_005732.4(RAD50):c.3485A>T (p.Tyr1162Phe) rs1554100943
NM_005732.4(RAD50):c.3487A>C (p.Ile1163Leu)
NM_005732.4(RAD50):c.3487A>T (p.Ile1163Leu) rs1294482423
NM_005732.4(RAD50):c.3488T>C (p.Ile1163Thr) rs759753449
NM_005732.4(RAD50):c.3491A>G (p.Glu1164Gly) rs1581021033
NM_005732.4(RAD50):c.3496C>G (p.Arg1166Gly)
NM_005732.4(RAD50):c.3497G>A (p.Arg1166Gln) rs763145238
NM_005732.4(RAD50):c.3499T>G (p.Ser1167Ala)
NM_005732.4(RAD50):c.3503A>T (p.Asp1168Val) rs764131107
NM_005732.4(RAD50):c.3504T>G (p.Asp1168Glu)
NM_005732.4(RAD50):c.3508G>C (p.Asp1170His) rs397507179
NM_005732.4(RAD50):c.3510T>A (p.Asp1170Glu)
NM_005732.4(RAD50):c.3510_3578dup (p.Glu1171_Thr1193dup) rs1554100946
NM_005732.4(RAD50):c.3511G>A (p.Glu1171Lys) rs1554100947
NM_005732.4(RAD50):c.3514A>G (p.Asn1172Asp) rs757481515
NM_005732.4(RAD50):c.3517G>A (p.Val1173Ile) rs1581021104
NM_005732.4(RAD50):c.3520T>G (p.Ser1174Ala) rs1751630797
NM_005732.4(RAD50):c.3524C>T (p.Ala1175Val)
NM_005732.4(RAD50):c.3531T>G (p.Asp1177Glu)
NM_005732.4(RAD50):c.3533A>C (p.Lys1178Thr) rs1751631565
NM_005732.4(RAD50):c.3535A>G (p.Arg1179Gly) rs1751631624
NM_005732.4(RAD50):c.3536G>A (p.Arg1179Lys) rs1751631681
NM_005732.4(RAD50):c.3539G>T (p.Arg1180Leu) rs369788398
NM_005732.4(RAD50):c.3541A>G (p.Asn1181Asp) rs1751631951
NM_005732.4(RAD50):c.3545A>T (p.Tyr1182Phe)
NM_005732.4(RAD50):c.3548A>G (p.Asn1183Ser) rs768280780
NM_005732.4(RAD50):c.3553C>G (p.Arg1185Gly)
NM_005732.4(RAD50):c.3554G>C (p.Arg1185Pro) rs747603489
NM_005732.4(RAD50):c.3554G>T (p.Arg1185Leu)
NM_005732.4(RAD50):c.3556G>T (p.Val1186Leu) rs1751632399
NM_005732.4(RAD50):c.3557T>G (p.Val1186Gly) rs1554100952
NM_005732.4(RAD50):c.3559G>A (p.Val1187Met)
NM_005732.4(RAD50):c.3559G>T (p.Val1187Leu) rs771855501
NM_005732.4(RAD50):c.3560T>C (p.Val1187Ala) rs876659182
NM_005732.4(RAD50):c.3562A>C (p.Met1188Leu) rs1581021189
NM_005732.4(RAD50):c.3562A>G (p.Met1188Val)
NM_005732.4(RAD50):c.3564G>A (p.Met1188Ile) rs1581021193
NM_005732.4(RAD50):c.3566T>C (p.Leu1189Pro) rs1581021198
NM_005732.4(RAD50):c.3572G>C (p.Gly1191Ala)
NM_005732.4(RAD50):c.3575A>G (p.Asp1192Gly)
NM_005732.4(RAD50):c.3576C>G (p.Asp1192Glu) rs1751633282
NM_005732.4(RAD50):c.3580G>T (p.Ala1194Ser)
NM_005732.4(RAD50):c.3580_3581delinsTT (p.Ala1194Phe) rs1751633499
NM_005732.4(RAD50):c.3581C>T (p.Ala1194Val)
NM_005732.4(RAD50):c.3586G>A (p.Asp1196Asn)
NM_005732.4(RAD50):c.3590T>C (p.Met1197Thr) rs751641472
NM_005732.4(RAD50):c.3591G>A (p.Met1197Ile) rs1554100957
NM_005732.4(RAD50):c.3596G>C (p.Gly1199Ala)
NM_005732.4(RAD50):c.3596G>T (p.Gly1199Val) rs1751634515
NM_005732.4(RAD50):c.3599G>A (p.Arg1200Gln) rs923849735
NM_005732.4(RAD50):c.3599G>C (p.Arg1200Pro) rs923849735
NM_005732.4(RAD50):c.3601T>A (p.Cys1201Ser)
NM_005732.4(RAD50):c.3601T>G (p.Cys1201Gly)
NM_005732.4(RAD50):c.3602G>A (p.Cys1201Tyr)
NM_005732.4(RAD50):c.3604A>G (p.Ser1202Gly)
NM_005732.4(RAD50):c.3605G>C (p.Ser1202Thr) rs1226471536
NM_005732.4(RAD50):c.3610G>A (p.Gly1204Arg)
NM_005732.4(RAD50):c.3610_3611delinsTT (p.Gly1204Leu) rs1581021304
NM_005732.4(RAD50):c.3611G>A (p.Gly1204Glu) rs1458966437
NM_005732.4(RAD50):c.3611G>C (p.Gly1204Ala) rs1458966437
NM_005732.4(RAD50):c.3614A>G (p.Gln1205Arg) rs987847849
NM_005732.4(RAD50):c.3617A>G (p.Lys1206Arg)
NM_005732.4(RAD50):c.3618+3A>G rs876660413
NM_005732.4(RAD50):c.3618+4G>A rs753872604
NM_005732.4(RAD50):c.3618+5G>A rs1554100971
NM_005732.4(RAD50):c.3618+5G>C
NM_005732.4(RAD50):c.3618+5G>T rs1554100971
NM_005732.4(RAD50):c.3619-3C>T rs876659518
NM_005732.4(RAD50):c.3622T>A (p.Leu1208Ile)
NM_005732.4(RAD50):c.3624A>T (p.Leu1208Phe)
NM_005732.4(RAD50):c.3625G>A (p.Ala1209Thr) rs1060501944
NM_005732.4(RAD50):c.3625G>C (p.Ala1209Pro) rs1060501944
NM_005732.4(RAD50):c.3626C>T (p.Ala1209Val) rs587782319
NM_005732.4(RAD50):c.3629C>T (p.Ser1210Leu) rs1060501977
NM_005732.4(RAD50):c.3631C>T (p.Leu1211Phe)
NM_005732.4(RAD50):c.3634A>G (p.Ile1212Val) rs1554101170
NM_005732.4(RAD50):c.3636C>G (p.Ile1212Met) rs1554101171
NM_005732.4(RAD50):c.3641G>A (p.Arg1214His) rs765290694
NM_005732.4(RAD50):c.3641G>T (p.Arg1214Leu) rs765290694
NM_005732.4(RAD50):c.3644T>C (p.Leu1215Pro) rs1581023680
NM_005732.4(RAD50):c.3646G>A (p.Ala1216Thr)
NM_005732.4(RAD50):c.3647C>G (p.Ala1216Gly) rs1314725075
NM_005732.4(RAD50):c.3647C>T (p.Ala1216Val) rs1314725075
NM_005732.4(RAD50):c.3650T>C (p.Leu1217Pro) rs1554101177
NM_005732.4(RAD50):c.3652G>A (p.Ala1218Thr)
NM_005732.4(RAD50):c.3652G>T (p.Ala1218Ser) rs1581023702
NM_005732.4(RAD50):c.3653C>T (p.Ala1218Val)
NM_005732.4(RAD50):c.3655G>A (p.Glu1219Lys) rs587781569
NM_005732.4(RAD50):c.3656A>G (p.Glu1219Gly)
NM_005732.4(RAD50):c.3659C>T (p.Thr1220Met)
NM_005732.4(RAD50):c.3667C>T (p.Leu1223Phe) rs1751699912
NM_005732.4(RAD50):c.3668T>A (p.Leu1223His) rs1581023721
NM_005732.4(RAD50):c.3668T>C (p.Leu1223Pro) rs1581023721
NM_005732.4(RAD50):c.3668T>G (p.Leu1223Arg)
NM_005732.4(RAD50):c.3671A>T (p.Asn1224Ile)
NM_005732.4(RAD50):c.3672C>A (p.Asn1224Lys)
NM_005732.4(RAD50):c.3673T>C (p.Cys1225Arg)
NM_005732.4(RAD50):c.3673T>G (p.Cys1225Gly)
NM_005732.4(RAD50):c.3674G>A (p.Cys1225Tyr) rs1581023740
NM_005732.4(RAD50):c.3676G>A (p.Gly1226Ser) rs1554101183
NM_005732.4(RAD50):c.3677G>A (p.Gly1226Asp) rs1751700559
NM_005732.4(RAD50):c.3677G>T (p.Gly1226Val)
NM_005732.4(RAD50):c.3678C>T (p.Gly1226=) rs1561660947
NM_005732.4(RAD50):c.3684T>G (p.Ile1228Met)
NM_005732.4(RAD50):c.3685G>A (p.Ala1229Thr)
NM_005732.4(RAD50):c.3690G>C (p.Leu1230Phe) rs1561660969
NM_005732.4(RAD50):c.3691G>A (p.Asp1231Asn)
NM_005732.4(RAD50):c.3692A>G (p.Asp1231Gly) rs1561660975
NM_005732.4(RAD50):c.3694G>A (p.Glu1232Lys) rs876660400
NM_005732.4(RAD50):c.3695A>G (p.Glu1232Gly)
NM_005732.4(RAD50):c.3698CAA[2] (p.Thr1235del) rs876659578
NM_005732.4(RAD50):c.3701C>A (p.Thr1234Lys) rs1751701483
NM_005732.4(RAD50):c.3701C>T (p.Thr1234Ile) rs1751701483
NM_005732.4(RAD50):c.3703A>G (p.Thr1235Ala) rs1581023781
NM_005732.4(RAD50):c.3704C>A (p.Thr1235Lys) rs1581023783
NM_005732.4(RAD50):c.3704C>G (p.Thr1235Arg) rs1581023783
NM_005732.4(RAD50):c.3704C>T (p.Thr1235Ile) rs1581023783
NM_005732.4(RAD50):c.3706A>G (p.Asn1236Asp) rs876660644
NM_005732.4(RAD50):c.3709C>T (p.Leu1237Phe)
NM_005732.4(RAD50):c.3712G>A (p.Asp1238Asn) rs1554101195
NM_005732.4(RAD50):c.3712G>C (p.Asp1238His) rs1554101195
NM_005732.4(RAD50):c.3713A>G (p.Asp1238Gly) rs2149865777
NM_005732.4(RAD50):c.3714_3728del (p.Asp1238_Ile1242del) rs1751701934
NM_005732.4(RAD50):c.3718G>C (p.Glu1240Gln) rs772197072
NM_005732.4(RAD50):c.3719A>G (p.Glu1240Gly)
NM_005732.4(RAD50):c.3721A>G (p.Asn1241Asp) rs876660142
NM_005732.4(RAD50):c.3724A>G (p.Ile1242Val) rs1581023817
NM_005732.4(RAD50):c.3724A>T (p.Ile1242Phe) rs1581023817
NM_005732.4(RAD50):c.3725T>A (p.Ile1242Asn)
NM_005732.4(RAD50):c.3727G>A (p.Glu1243Lys) rs1554101199
NM_005732.4(RAD50):c.3729A>C (p.Glu1243Asp) rs760741207
NM_005732.4(RAD50):c.3729A>T (p.Glu1243Asp)
NM_005732.4(RAD50):c.3733C>G (p.Leu1245Val) rs1554101201
NM_005732.4(RAD50):c.3733C>T (p.Leu1245Phe) rs1554101201
NM_005732.4(RAD50):c.3734T>C (p.Leu1245Pro) rs2149865834
NM_005732.4(RAD50):c.3734T>G (p.Leu1245Arg)
NM_005732.4(RAD50):c.3736G>A (p.Ala1246Thr) rs1561661047
NM_005732.4(RAD50):c.3737C>T (p.Ala1246Val) rs1370560173
NM_005732.4(RAD50):c.3737_3740delinsTACT (p.Ala1246_His1247delinsValLeu) rs1554101203
NM_005732.4(RAD50):c.3740A>G (p.His1247Arg) rs1397349878
NM_005732.4(RAD50):c.3740A>T (p.His1247Leu) rs1397349878
NM_005732.4(RAD50):c.3742G>A (p.Ala1248Thr) rs1581023861
NM_005732.4(RAD50):c.3743C>A (p.Ala1248Asp)
NM_005732.4(RAD50):c.3745C>A (p.Leu1249Met)
NM_005732.4(RAD50):c.3746T>C (p.Leu1249Pro) rs1751703893
NM_005732.4(RAD50):c.3748G>C (p.Val1250Leu)
NM_005732.4(RAD50):c.3748G>T (p.Val1250Phe) rs1200638952
NM_005732.4(RAD50):c.3749T>C (p.Val1250Ala) rs1060501965
NM_005732.4(RAD50):c.3752+20_3752+22delinsTTA
NM_005732.4(RAD50):c.3752+4A>G rs1751704410
NM_005732.4(RAD50):c.3752+4_3752+7del
NM_005732.4(RAD50):c.3752A>G (p.Glu1251Gly) rs1561661088
NM_005732.4(RAD50):c.3753-2A>T
NM_005732.4(RAD50):c.3753-3C>G rs1314312089
NM_005732.4(RAD50):c.3753-3C>T rs1314312089
NM_005732.4(RAD50):c.3753-5T>A rs1581024884
NM_005732.4(RAD50):c.3755T>A (p.Ile1252Lys) rs2149866803
NM_005732.4(RAD50):c.3755TAA[1] (p.Ile1253del) rs2149866800
NM_005732.4(RAD50):c.3758T>C (p.Ile1253Thr) rs1751736996
NM_005732.4(RAD50):c.3761A>T (p.Lys1254Ile)
NM_005732.4(RAD50):c.3761_3763del (p.Lys1254del) rs760621534
NM_005732.4(RAD50):c.3763A>G (p.Ser1255Gly)
NM_005732.4(RAD50):c.3763del (p.Ser1255fs) rs760621534
NM_005732.4(RAD50):c.3764G>A (p.Ser1255Asn) rs1202026618
NM_005732.4(RAD50):c.3764G>T (p.Ser1255Ile) rs1202026618
NM_005732.4(RAD50):c.3765T>G (p.Ser1255Arg) rs1554101316
NM_005732.4(RAD50):c.3766C>A (p.Arg1256Ser) rs561655417
NM_005732.4(RAD50):c.3767G>T (p.Arg1256Leu) rs786203127
NM_005732.4(RAD50):c.3769T>C (p.Ser1257Pro) rs786201205
NM_005732.4(RAD50):c.3770C>T (p.Ser1257Leu)

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