ClinVar Miner

List of variants in gene combination RAD50, TH2-LCR, TH2LCRR reported as pathogenic by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.3553C>T (p.Arg1185Ter) rs778555849 0.00004
NM_005732.4(RAD50):c.3592C>T (p.Arg1198Ter) rs761837416 0.00002
NM_005732.4(RAD50):c.3454C>T (p.Arg1152Ter) rs745797941 0.00001
NM_005732.4(RAD50):c.3598C>T (p.Arg1200Ter) rs750586158 0.00001
NM_005732.4(RAD50):c.3655G>T (p.Glu1219Ter) rs587781569 0.00001
NC_000005.10:g.(?_132556924)_(132644621_?)del
NC_000005.10:g.(?_132557315)_(132642374_?)del
NC_000005.10:g.(?_132575767)_(132642374_?)del
NM_005732.4(RAD50):c.3429_3432del (p.Asn1144fs)
NM_005732.4(RAD50):c.3440_3441dup (p.Arg1148fs) rs1554100863
NM_005732.4(RAD50):c.3458_3459dup (p.Thr1154fs) rs2149862783
NM_005732.4(RAD50):c.3458dup (p.Ser1153fs) rs2149862778
NM_005732.4(RAD50):c.3460_3462delinsCGTGGTCACG (p.Thr1154fs) rs1751598318
NM_005732.4(RAD50):c.3476del (p.Asp1159fs) rs1554100940
NM_005732.4(RAD50):c.3489_3495del (p.Glu1164fs) rs878854799
NM_005732.4(RAD50):c.3493del (p.Ile1165fs) rs2149863464
NM_005732.4(RAD50):c.3525_3538del (p.Ser1176fs) rs1423570602
NM_005732.4(RAD50):c.3578_3579dup (p.Ala1194fs) rs1751633228
NM_005732.4(RAD50):c.3593_3603del (p.Arg1198fs)
NM_005732.4(RAD50):c.3649dup (p.Leu1217fs) rs2149865588

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.