ClinVar Miner

List of variants reported as uncertain significance for Combined immunodeficiency due to OX40 deficiency

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ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) rs150407012 0.00090
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
NC_000001.10:g.(?_955553)_(1168648_?)dup
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

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