ClinVar Miner

List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as likely benign by Ambry Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3456A>T (p.Arg1152=) rs775075281 0.00006
NM_005732.4(RAD50):c.3486C>T (p.Tyr1162=) rs864622078 0.00002
NM_005732.4(RAD50):c.3609T>G (p.Ala1203=) rs766082130 0.00002
NM_005732.4(RAD50):c.3642C>T (p.Arg1214=) rs752662569 0.00002
NM_005732.4(RAD50):c.3687C>T (p.Ala1229=) rs139099583 0.00002
NM_005732.4(RAD50):c.3696G>A (p.Glu1232=) rs749673167 0.00002
NM_005732.4(RAD50):c.3444T>C (p.Arg1148=) rs1159262705 0.00001
NM_005732.4(RAD50):c.3516T>C (p.Asn1172=) rs876659574 0.00001
NM_005732.4(RAD50):c.3522A>T (p.Ser1174=) rs750262906 0.00001
NM_005732.4(RAD50):c.3543T>C (p.Asn1181=) rs749147171 0.00001
NM_005732.4(RAD50):c.3546T>C (p.Tyr1182=) rs786201818 0.00001
NM_005732.4(RAD50):c.3561G>A (p.Val1187=) rs772962371 0.00001
NM_005732.4(RAD50):c.3579A>G (p.Thr1193=) rs1158993684 0.00001
NM_005732.4(RAD50):c.3621A>G (p.Val1207=) rs786201767 0.00001
NM_005732.4(RAD50):c.3648C>T (p.Ala1216=) rs1554101176 0.00001
NM_005732.4(RAD50):c.3660G>A (p.Thr1220=) rs758026288 0.00001
NM_005732.4(RAD50):c.3669C>G (p.Leu1223=) rs200496768 0.00001
NM_005732.4(RAD50):c.3402A>G (p.Lys1134=) rs876658778
NM_005732.4(RAD50):c.3405T>C (p.Phe1135=) rs1554100854
NM_005732.4(RAD50):c.3408C>T (p.His1136=) rs786201225
NM_005732.4(RAD50):c.3417A>G (p.Lys1139=)
NM_005732.4(RAD50):c.3429C>A (p.Ile1143=) rs1581020189
NM_005732.4(RAD50):c.3447C>T (p.Asp1149=) rs876658882
NM_005732.4(RAD50):c.3459T>C (p.Ser1153=)
NM_005732.4(RAD50):c.3462C>A (p.Thr1154=) rs958083506
NM_005732.4(RAD50):c.3462C>T (p.Thr1154=) rs958083506
NM_005732.4(RAD50):c.3468T>G (p.Arg1156=) rs1056543818
NM_005732.4(RAD50):c.3476-18TTC[2] rs730881922
NM_005732.4(RAD50):c.3510T>C (p.Asp1170=)
NM_005732.4(RAD50):c.3519A>G (p.Val1173=) rs781320722
NM_005732.4(RAD50):c.3522A>G (p.Ser1174=) rs750262906
NM_005732.4(RAD50):c.3528T>C (p.Ser1176=)
NM_005732.4(RAD50):c.3528T>G (p.Ser1176=)
NM_005732.4(RAD50):c.3531T>C (p.Asp1177=) rs1415093880
NM_005732.4(RAD50):c.3537G>A (p.Arg1179=) rs2149863555
NM_005732.4(RAD50):c.3558G>A (p.Val1186=)
NM_005732.4(RAD50):c.3558G>C (p.Val1186=) rs2149863600
NM_005732.4(RAD50):c.3567G>A (p.Leu1189=) rs759971562
NM_005732.4(RAD50):c.3582C>T (p.Ala1194=)
NM_005732.4(RAD50):c.3585G>A (p.Leu1195=) rs786201774
NM_005732.4(RAD50):c.3600A>T (p.Arg1200=) rs1241453759
NM_005732.4(RAD50):c.3603C>T (p.Cys1201=) rs925410997
NM_005732.4(RAD50):c.3619-5dup rs1411469588
NM_005732.4(RAD50):c.3627C>T (p.Ala1209=) rs2149865539
NM_005732.4(RAD50):c.3630A>G (p.Ser1210=) rs1301826986
NM_005732.4(RAD50):c.3633C>A (p.Leu1211=)
NM_005732.4(RAD50):c.3633C>T (p.Leu1211=) rs876660945
NM_005732.4(RAD50):c.3648C>A (p.Ala1216=) rs1554101176
NM_005732.4(RAD50):c.3648C>G (p.Ala1216=)
NM_005732.4(RAD50):c.3651G>C (p.Leu1217=) rs1554101178
NM_005732.4(RAD50):c.3654T>A (p.Ala1218=)
NM_005732.4(RAD50):c.3660G>C (p.Thr1220=)
NM_005732.4(RAD50):c.3663C>T (p.Phe1221=)
NM_005732.4(RAD50):c.3672C>T (p.Asn1224=) rs1220065101
NM_005732.4(RAD50):c.3675T>C (p.Cys1225=)
NM_005732.4(RAD50):c.3690G>A (p.Leu1230=) rs1561660969
NM_005732.4(RAD50):c.3726T>C (p.Ile1242=)
NM_005732.4(RAD50):c.3732T>C (p.Ser1244=) rs2149865829
NM_005732.4(RAD50):c.3744T>C (p.Ala1248=) rs1554101204
NM_005732.4(RAD50):c.3745C>T (p.Leu1249=) rs1230753352
NM_005732.4(RAD50):c.3756A>C (p.Ile1252=) rs763958218
NM_005732.4(RAD50):c.3765T>C (p.Ser1255=) rs1554101316

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