ClinVar Miner

List of variants reported as uncertain significance for combined immunodeficiency due to OX40 deficiency by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003327.4(TNFRSF4):c.197C>T (p.Pro66Leu) rs370919067 0.00024
NM_003327.4(TNFRSF4):c.580G>T (p.Ala194Ser) rs374382066 0.00024
NM_003327.4(TNFRSF4):c.553A>G (p.Arg185Gly) rs148695736 0.00018
NM_003327.4(TNFRSF4):c.614G>A (p.Arg205Gln) rs749385408 0.00013
NM_003327.4(TNFRSF4):c.202G>A (p.Gly68Arg) rs139254733 0.00011
NM_003327.4(TNFRSF4):c.206C>T (p.Pro69Leu) rs199733493 0.00011
NM_003327.4(TNFRSF4):c.273T>A (p.Ser91Arg) rs762686787 0.00010
NM_003327.4(TNFRSF4):c.631G>A (p.Gly211Arg) rs757565777 0.00010
NM_003327.4(TNFRSF4):c.163C>T (p.Arg55Cys) rs769325973 0.00009
NM_003327.4(TNFRSF4):c.223G>A (p.Val75Met) rs201012235 0.00006
NM_003327.4(TNFRSF4):c.31G>A (p.Gly11Arg) rs376504072 0.00006
NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser) rs776572462 0.00006
NM_003327.4(TNFRSF4):c.308A>G (p.Gln103Arg) rs769195529 0.00004
NM_003327.4(TNFRSF4):c.322C>T (p.Arg108Cys) rs527845865 0.00004
NM_003327.4(TNFRSF4):c.332C>T (p.Ala111Val) rs777266991 0.00004
NM_003327.4(TNFRSF4):c.613C>T (p.Arg205Trp) rs773180013 0.00004
NM_003327.4(TNFRSF4):c.722G>A (p.Arg241Gln) rs776902723 0.00004
NM_003327.4(TNFRSF4):c.801G>C (p.Gln267His) rs762071902 0.00004
NM_003327.4(TNFRSF4):c.808G>A (p.Ala270Thr) rs375419469 0.00004
NM_003327.4(TNFRSF4):c.185C>T (p.Thr62Met) rs368516876 0.00003
NM_003327.4(TNFRSF4):c.20G>A (p.Arg7Gln) rs555329852 0.00003
NM_003327.4(TNFRSF4):c.217A>G (p.Asn73Asp) rs776299984 0.00003
NM_003327.4(TNFRSF4):c.329G>A (p.Arg110Gln) rs371978650 0.00003
NM_003327.4(TNFRSF4):c.34C>T (p.Pro12Ser) rs746209318 0.00003
NM_003327.4(TNFRSF4):c.504C>G (p.Asp168Glu) rs201228114 0.00003
NM_003327.4(TNFRSF4):c.509del (p.Asp170fs) rs774777119 0.00003
NM_003327.4(TNFRSF4):c.152G>C (p.Gly51Ala) rs926489272 0.00002
NM_003327.4(TNFRSF4):c.299C>T (p.Thr100Met) rs762131334 0.00002
NM_003327.4(TNFRSF4):c.370+3G>A rs774670634 0.00002
NM_003327.4(TNFRSF4):c.745G>A (p.Asp249Asn) rs754604681 0.00002
NM_003327.4(TNFRSF4):c.764-2del rs1253678132 0.00002
NM_003327.4(TNFRSF4):c.11G>A (p.Gly4Glu) rs1295347453 0.00001
NM_003327.4(TNFRSF4):c.121C>T (p.Arg41Trp) rs748879803 0.00001
NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp) rs979161075 0.00001
NM_003327.4(TNFRSF4):c.239C>T (p.Pro80Leu) rs757655414 0.00001
NM_003327.4(TNFRSF4):c.253A>G (p.Thr85Ala) rs367654407 0.00001
NM_003327.4(TNFRSF4):c.37T>C (p.Cys13Arg) rs757810037 0.00001
NM_003327.4(TNFRSF4):c.391G>C (p.Gly131Arg) rs771330950 0.00001
NM_003327.4(TNFRSF4):c.448G>T (p.Ala150Ser) rs1285284406 0.00001
NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) rs755162827 0.00001
NM_003327.4(TNFRSF4):c.485C>T (p.Ser162Leu) rs372412045 0.00001
NM_003327.4(TNFRSF4):c.490G>A (p.Ala164Thr) rs377530517 0.00001
NM_003327.4(TNFRSF4):c.493A>T (p.Ile165Phe) rs773861319 0.00001
NM_003327.4(TNFRSF4):c.548C>G (p.Pro183Arg) rs191704944 0.00001
NM_003327.4(TNFRSF4):c.667C>G (p.Leu223Val) rs767154582 0.00001
NM_003327.4(TNFRSF4):c.668T>C (p.Leu223Pro) rs761837798 0.00001
NM_003327.4(TNFRSF4):c.721C>T (p.Arg241Trp) rs1006323015 0.00001
NM_003327.4(TNFRSF4):c.76G>A (p.Val26Met) rs1273445446 0.00001
NM_003327.4(TNFRSF4):c.805G>A (p.Asp269Asn) rs769107435 0.00001
NM_003327.4(TNFRSF4):c.80C>T (p.Thr27Met) rs775900244 0.00001
NM_003327.4(TNFRSF4):c.812A>G (p.His271Arg) rs1336408361 0.00001
NM_003327.4(TNFRSF4):c.822G>A (p.Leu274=) rs1403848680 0.00001
NC_000001.10:g.(?_1146915)_(1168668_?)dup
NC_000001.10:g.(?_1146935)_(1168648_?)dup
NC_000001.10:g.(?_861322)_(3768971_?)del
NM_003327.4(TNFRSF4):c.104C>T (p.Thr35Ile) rs915896849
NM_003327.4(TNFRSF4):c.111del (p.Ser38fs)
NM_003327.4(TNFRSF4):c.125G>A (p.Cys42Tyr)
NM_003327.4(TNFRSF4):c.128G>C (p.Cys43Ser)
NM_003327.4(TNFRSF4):c.145+5G>A rs1290256405
NM_003327.4(TNFRSF4):c.145+6G>A
NM_003327.4(TNFRSF4):c.146-2A>G rs983879173
NM_003327.4(TNFRSF4):c.146-84_328del
NM_003327.4(TNFRSF4):c.154A>G (p.Met52Val)
NM_003327.4(TNFRSF4):c.161G>A (p.Ser54Asn)
NM_003327.4(TNFRSF4):c.16C>T (p.Arg6Trp)
NM_003327.4(TNFRSF4):c.173G>A (p.Arg58His)
NM_003327.4(TNFRSF4):c.173G>T (p.Arg58Leu) rs370340188
NM_003327.4(TNFRSF4):c.178C>A (p.Gln60Lys)
NM_003327.4(TNFRSF4):c.181A>G (p.Asn61Asp)
NM_003327.4(TNFRSF4):c.192C>T (p.Cys64=)
NM_003327.4(TNFRSF4):c.194G>A (p.Arg65His) rs767897638
NM_003327.4(TNFRSF4):c.194G>T (p.Arg65Leu) rs767897638
NM_003327.4(TNFRSF4):c.19C>T (p.Arg7Trp) rs572497059
NM_003327.4(TNFRSF4):c.1A>T (p.Met1Leu) rs2100957059
NM_003327.4(TNFRSF4):c.212T>C (p.Phe71Ser)
NM_003327.4(TNFRSF4):c.220G>A (p.Asp74Asn) rs1557508466
NM_003327.4(TNFRSF4):c.230G>A (p.Ser77Asn)
NM_003327.4(TNFRSF4):c.243C>T (p.Cys81=)
NM_003327.4(TNFRSF4):c.254C>T (p.Thr85Met)
NM_003327.4(TNFRSF4):c.264C>A (p.Asn88Lys) rs975694220
NM_003327.4(TNFRSF4):c.268+6C>T rs1323320126
NM_003327.4(TNFRSF4):c.269-3C>T
NM_003327.4(TNFRSF4):c.26G>C (p.Gly9Ala)
NM_003327.4(TNFRSF4):c.275G>C (p.Gly92Ala)
NM_003327.4(TNFRSF4):c.29G>T (p.Arg10Leu) rs774474644
NM_003327.4(TNFRSF4):c.314_315del (p.Thr105fs) rs1388272030
NM_003327.4(TNFRSF4):c.314_315insT (p.Val106fs)
NM_003327.4(TNFRSF4):c.323G>A (p.Arg108His) rs1402392323
NM_003327.4(TNFRSF4):c.325T>G (p.Cys109Gly)
NM_003327.4(TNFRSF4):c.328C>T (p.Arg110Trp)
NM_003327.4(TNFRSF4):c.329G>C (p.Arg110Pro)
NM_003327.4(TNFRSF4):c.332C>A (p.Ala111Glu) rs777266991
NM_003327.4(TNFRSF4):c.354C>G (p.Ser118Arg)
NM_003327.4(TNFRSF4):c.35C>G (p.Pro12Arg) rs771462465
NM_003327.4(TNFRSF4):c.35C>T (p.Pro12Leu) rs771462465
NM_003327.4(TNFRSF4):c.370+2T>C
NM_003327.4(TNFRSF4):c.370G>C (p.Asp124His) rs761778989
NM_003327.4(TNFRSF4):c.370G>T (p.Asp124Tyr) rs761778989
NM_003327.4(TNFRSF4):c.371-13_371-10del rs2100953077
NM_003327.4(TNFRSF4):c.371-3C>T rs2100953066
NM_003327.4(TNFRSF4):c.371-5T>G
NM_003327.4(TNFRSF4):c.371A>G (p.Asp124Gly) rs1448767765
NM_003327.4(TNFRSF4):c.385C>T (p.Pro129Ser)
NM_003327.4(TNFRSF4):c.398T>C (p.Phe133Ser)
NM_003327.4(TNFRSF4):c.40G>A (p.Ala14Thr) rs2100956904
NM_003327.4(TNFRSF4):c.413A>G (p.Asn138Ser)
NM_003327.4(TNFRSF4):c.419C>T (p.Ala140Val) rs2100952849
NM_003327.4(TNFRSF4):c.41C>T (p.Ala14Val)
NM_003327.4(TNFRSF4):c.425A>G (p.Lys142Arg)
NM_003327.4(TNFRSF4):c.437+5G>A rs1557506739
NM_003327.4(TNFRSF4):c.461C>A (p.Thr154Asn)
NM_003327.4(TNFRSF4):c.46C>G (p.Leu16Val)
NM_003327.4(TNFRSF4):c.476G>A (p.Ser159Asn) rs2100950885
NM_003327.4(TNFRSF4):c.485C>G (p.Ser162Trp)
NM_003327.4(TNFRSF4):c.489C>G (p.Asp163Glu)
NM_003327.4(TNFRSF4):c.491C>A (p.Ala164Glu) rs2100950839
NM_003327.4(TNFRSF4):c.4T>C (p.Cys2Arg)
NM_003327.4(TNFRSF4):c.510C>A (p.Asp170Glu)
NM_003327.4(TNFRSF4):c.515dup (p.Ala173fs) rs769217131
NM_003327.4(TNFRSF4):c.521C>T (p.Thr174Met)
NM_003327.4(TNFRSF4):c.526C>T (p.Pro176Ser)
NM_003327.4(TNFRSF4):c.548del (p.Pro183fs)
NM_003327.4(TNFRSF4):c.55C>G (p.Leu19Val) rs931411183
NM_003327.4(TNFRSF4):c.614G>C (p.Arg205Pro) rs749385408
NM_003327.4(TNFRSF4):c.631G>C (p.Gly211Arg)
NM_003327.4(TNFRSF4):c.634+5G>C
NM_003327.4(TNFRSF4):c.634+8C>T rs199647845
NM_003327.4(TNFRSF4):c.635-3C>T
NM_003327.4(TNFRSF4):c.638G>C (p.Arg213Pro) rs1402575779
NM_003327.4(TNFRSF4):c.641C>T (p.Ala214Val)
NM_003327.4(TNFRSF4):c.641_642del (p.Ala214fs) rs2100949964
NM_003327.4(TNFRSF4):c.646GCC[1] (p.Ala217del) rs780877916
NM_003327.4(TNFRSF4):c.659GCCTGG[3] (p.Leu223_Val224insGlyLeu)
NM_003327.4(TNFRSF4):c.678del (p.Leu227fs) rs2100949816
NM_003327.4(TNFRSF4):c.692del (p.Leu231fs)
NM_003327.4(TNFRSF4):c.698T>C (p.Ile233Thr) rs1649125548
NM_003327.4(TNFRSF4):c.6C>G (p.Cys2Trp) rs202161001
NM_003327.4(TNFRSF4):c.751C>T (p.His251Tyr)
NM_003327.4(TNFRSF4):c.762T>C (p.Pro254=)
NM_003327.4(TNFRSF4):c.763+6T>A rs375875899
NM_003327.4(TNFRSF4):c.764-1G>A rs773552376
NM_003327.4(TNFRSF4):c.767G>C (p.Gly256Ala) rs1649106016
NM_003327.4(TNFRSF4):c.779G>A (p.Arg260Gln)
NM_003327.4(TNFRSF4):c.779G>C (p.Arg260Pro)
NM_003327.4(TNFRSF4):c.796G>A (p.Glu266Lys) rs2100948983
NM_003327.4(TNFRSF4):c.7G>A (p.Val3Met) rs751046781
NM_003327.4(TNFRSF4):c.809C>A (p.Ala270Asp)
NM_003327.4(TNFRSF4):c.83G>A (p.Gly28Glu)
NM_003327.4(TNFRSF4):c.86T>G (p.Leu29Arg)
NM_003327.4(TNFRSF4):c.88C>T (p.His30Tyr) rs1649348844

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.