ClinVar Miner

List of variants in gene RAD50 reported as likely pathogenic for Nijmegen breakage syndrome-like disorder

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 62
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005732.4(RAD50):c.687del (p.Ser229fs) rs760146707 0.00042
NM_005732.4(RAD50):c.3277C>T (p.Arg1093Ter) rs121912628 0.00003
NM_005732.4(RAD50):c.412C>T (p.Arg138Ter) rs786203485 0.00003
NM_005732.4(RAD50):c.1052-2A>C rs876660957 0.00001
NM_005732.4(RAD50):c.1093C>T (p.Arg365Ter) rs1247689593 0.00001
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter) rs373428259 0.00001
NM_005732.4(RAD50):c.129+1G>T rs1339714611 0.00001
NM_005732.4(RAD50):c.1794-1G>A rs587781742 0.00001
NM_005732.4(RAD50):c.193dup (p.Thr65fs) rs1750079483 0.00001
NM_005732.4(RAD50):c.3050G>A (p.Trp1017Ter) rs1554099776 0.00001
NM_005732.4(RAD50):c.3164+1G>T rs786203805 0.00001
NM_005732.4(RAD50):c.552-1G>A rs1236278956 0.00001
NM_005732.4(RAD50):c.676C>T (p.Gln226Ter) rs377429225 0.00001
NM_005732.4(RAD50):c.756+2T>C rs764122619 0.00001
NM_005732.4(RAD50):c.94dup (p.Thr32fs) rs587781625 0.00001
NM_005732.4(RAD50):c.1051+1G>A rs2149840720
NM_005732.4(RAD50):c.1052-1G>A rs1750640480
NM_005732.4(RAD50):c.1052dup
NM_005732.4(RAD50):c.1114C>T (p.Gln372Ter) rs104895046
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs) rs1554098250
NM_005732.4(RAD50):c.1208_1209dup (p.Gln404fs) rs786203655
NM_005732.4(RAD50):c.1238_1241del (p.Gln413fs) rs1750646869
NM_005732.4(RAD50):c.1262_1265del (p.Lys421fs)
NM_005732.4(RAD50):c.1270_1271del (p.Leu424fs) rs587781327
NM_005732.4(RAD50):c.1295_1296del (p.Ile432fs)
NM_005732.4(RAD50):c.1360C>T (p.Gln454Ter) rs758641567
NM_005732.4(RAD50):c.139G>T (p.Glu47Ter) rs1750077980
NM_005732.4(RAD50):c.1620_1621insAG (p.Leu541fs) rs764968413
NM_005732.4(RAD50):c.1722dup (p.Gln575fs) rs587782543
NM_005732.4(RAD50):c.1774del (p.Asp592fs) rs757261714
NM_005732.4(RAD50):c.183del (p.Gly63fs) rs1554096791
NM_005732.4(RAD50):c.1876G>T (p.Glu626Ter)
NM_005732.4(RAD50):c.1966C>T (p.Arg656Ter) rs749466673
NM_005732.4(RAD50):c.2026G>T (p.Glu676Ter) rs773761143
NM_005732.4(RAD50):c.2050dup (p.Cys684fs)
NM_005732.4(RAD50):c.2095_2113dup (p.Leu705delinsGlnTer) rs1750779319
NM_005732.4(RAD50):c.2202del (p.Pro734_Met735insTer) rs786201789
NM_005732.4(RAD50):c.2314del (p.Glu772fs) rs1554099106
NM_005732.4(RAD50):c.2367_2375del (p.Asp791_Thr793del)
NM_005732.4(RAD50):c.2467C>T (p.Arg823Ter) rs1060501936
NM_005732.4(RAD50):c.2725A>T (p.Lys909Ter)
NM_005732.4(RAD50):c.2789_2792del (p.Ile930fs) rs587781930
NM_005732.4(RAD50):c.2801dup (p.Asn934fs) rs748536322
NM_005732.4(RAD50):c.2884G>T (p.Glu962Ter) rs1561647410
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter) rs876660364
NM_005732.4(RAD50):c.3029_3032del (p.Thr1010fs) rs1060501941
NM_005732.4(RAD50):c.304_307del (p.Cys102fs)
NM_005732.4(RAD50):c.3058del (p.Asp1020fs)
NM_005732.4(RAD50):c.3068_3072del (p.Thr1023fs)
NM_005732.4(RAD50):c.3160_3164+8del rs1751171297
NM_005732.4(RAD50):c.3165-2A>G
NM_005732.4(RAD50):c.3209del (p.Asn1070fs) rs786202187
NM_005732.4(RAD50):c.3353del (p.Asn1118fs) rs1554099888
NM_005732.4(RAD50):c.3372T>A (p.Tyr1124Ter) rs775069541
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter) rs1561635887
NM_005732.4(RAD50):c.475C>T (p.Gln159Ter)
NM_005732.4(RAD50):c.541_542delinsA (p.Ser181fs) rs876659255
NM_005732.4(RAD50):c.541dup (p.Ser181fs) rs786201531
NM_005732.4(RAD50):c.551+1G>C
NM_005732.4(RAD50):c.552-2A>C rs1060501970
NM_005732.4(RAD50):c.561dup (p.Ala188fs) rs876659005
NM_005732.4(RAD50):c.731_732del (p.Ser243_Tyr244insTer) rs1580987798

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.