ClinVar Miner

List of variants studied for Combined immunodeficiency due to OX40 deficiency by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_003327.4(TNFRSF4):c.534G>A (p.Glu178=) rs17568 0.30283
NM_003327.4(TNFRSF4):c.634+25C>T rs2298212 0.07989
NM_003327.4(TNFRSF4):c.370+14C>T rs35033502 0.02612
NM_003327.4(TNFRSF4):c.297C>T (p.Cys99=) rs34160451 0.01619
NM_003327.4(TNFRSF4):c.804C>T (p.Ala268=) rs35160621 0.00571
NM_003327.4(TNFRSF4):c.764-19C>T rs34945898 0.00554
NM_003327.4(TNFRSF4):c.28C>T (p.Arg10Cys) rs35304565 0.00478
NM_003327.4(TNFRSF4):c.470C>T (p.Pro157Leu) rs150220682 0.00185
NM_003327.4(TNFRSF4):c.649G>A (p.Ala217Thr) rs375611972 0.00143
NM_003327.4(TNFRSF4):c.293T>C (p.Leu98Pro) rs150516264 0.00142
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) rs150407012 0.00090
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met) rs201461846 0.00085
NM_003327.4(TNFRSF4):c.333G>A (p.Ala111=) rs142751158 0.00036
NM_003327.4(TNFRSF4):c.75C>T (p.Thr25=) rs142774962 0.00036
NM_003327.4(TNFRSF4):c.222C>T (p.Asp74=) rs541791598 0.00029
NM_003327.4(TNFRSF4):c.543C>T (p.Gly181=) rs756542209 0.00029
NM_003327.4(TNFRSF4):c.177C>T (p.Ser59=) rs144102157 0.00024
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.682C>T (p.Leu228=) rs372578101 0.00024
NM_003327.4(TNFRSF4):c.618C>T (p.Pro206=) rs569162785 0.00019
NM_003327.4(TNFRSF4):c.146-15C>T rs202012354 0.00018
NM_003327.4(TNFRSF4):c.370+17C>T rs369074008 0.00018
NM_003327.4(TNFRSF4):c.553A>G (p.Arg185Gly) rs148695736 0.00018
NM_003327.4(TNFRSF4):c.111C>T (p.Pro37=) rs200983968 0.00015
NM_003327.4(TNFRSF4):c.471G>A (p.Pro157=) rs61761334 0.00015
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.207G>A (p.Pro69=) rs555467061 0.00011
NM_003327.4(TNFRSF4):c.273T>A (p.Ser91Arg) rs762686787 0.00010
NM_003327.4(TNFRSF4):c.447G>A (p.Leu149=) rs572939257 0.00010
NM_003327.4(TNFRSF4):c.486G>A (p.Ser162=) rs199860102 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.408C>T (p.Gly136=) rs367869917 0.00006
NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser) rs776572462 0.00006
NM_003327.4(TNFRSF4):c.7G>C (p.Val3Leu) rs751046781 0.00006
NM_003327.4(TNFRSF4):c.132C>T (p.His44=) rs375760850 0.00005
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.423C>T (p.Cys141=) rs771531096 0.00004
NM_003327.4(TNFRSF4):c.437+14C>A rs778519697 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.370+8C>A rs376518717 0.00003
NM_003327.4(TNFRSF4):c.378C>A (p.Ala126=) rs538592266 0.00003
NM_003327.4(TNFRSF4):c.489C>T (p.Asp163=) rs768010168 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.510C>T (p.Asp170=) rs368736683 0.00003
NM_003327.4(TNFRSF4):c.679C>T (p.Leu227=) rs1234350697 0.00003
NM_003327.4(TNFRSF4):c.150C>T (p.Asn50=) rs374671814 0.00002
NM_003327.4(TNFRSF4):c.152G>C (p.Gly51Ala) rs926489272 0.00002
NM_003327.4(TNFRSF4):c.255G>A (p.Thr85=) rs201768518 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.764-8C>T rs758336413 0.00002
NM_003327.4(TNFRSF4):c.117C>T (p.Asn39=) rs771662473 0.00001
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.145+17G>A rs750396022 0.00001
NM_003327.4(TNFRSF4):c.146-18C>T rs767867744 0.00001
NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp) rs979161075 0.00001
NM_003327.4(TNFRSF4):c.219C>T (p.Asn73=) rs746769533 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.269-10C>T rs1370393670 0.00001
NM_003327.4(TNFRSF4):c.300G>C (p.Thr100=) rs184488968 0.00001
NM_003327.4(TNFRSF4):c.36G>A (p.Pro12=) rs777345366 0.00001
NM_003327.4(TNFRSF4):c.370+11T>C rs1649243786 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.42G>A (p.Ala14=) rs556058356 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.634+9G>A rs1164078859 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.816C>T (p.Ser272=) rs775834591 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+20C>G
NM_003327.4(TNFRSF4):c.145+20C>T
NM_003327.4(TNFRSF4):c.145+5G>A rs1290256405
NM_003327.4(TNFRSF4):c.145+6G>A
NM_003327.4(TNFRSF4):c.146-17G>A
NM_003327.4(TNFRSF4):c.146-2A>G rs983879173
NM_003327.4(TNFRSF4):c.146-32_146-15dup
NM_003327.4(TNFRSF4):c.146-4G>A rs1017055990
NM_003327.4(TNFRSF4):c.146-4G>T
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.186G>A (p.Thr62=) rs376354151
NM_003327.4(TNFRSF4):c.186G>C (p.Thr62=) rs376354151
NM_003327.4(TNFRSF4):c.186G>T (p.Thr62=)
NM_003327.4(TNFRSF4):c.18G>C (p.Arg6=)
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.198G>A (p.Pro66=)
NM_003327.4(TNFRSF4):c.198G>T (p.Pro66=)
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.201C>T (p.Cys67=)
NM_003327.4(TNFRSF4):c.212T>C (p.Phe71Ser)
NM_003327.4(TNFRSF4):c.213C>T (p.Phe71=)
NM_003327.4(TNFRSF4):c.220G>A (p.Asp74Asn) rs1557508466
NM_003327.4(TNFRSF4):c.22C>T (p.Leu8=) rs2100956977
NM_003327.4(TNFRSF4):c.230G>A (p.Ser77Asn)
NM_003327.4(TNFRSF4):c.234C>T (p.Ser78=)
NM_003327.4(TNFRSF4):c.240G>A (p.Pro80=)
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+10C>T
NM_003327.4(TNFRSF4):c.268+17C>T
NM_003327.4(TNFRSF4):c.268+6C>T rs1323320126
NM_003327.4(TNFRSF4):c.269-16dup
NM_003327.4(TNFRSF4):c.269-18C>G rs749945507
NM_003327.4(TNFRSF4):c.269-18C>T rs749945507
NM_003327.4(TNFRSF4):c.269-18del
NM_003327.4(TNFRSF4):c.269-18dup rs750655851
NM_003327.4(TNFRSF4):c.269-19C>G rs193151776
NM_003327.4(TNFRSF4):c.269-3C>T
NM_003327.4(TNFRSF4):c.269-8C>T rs2100954128
NM_003327.4(TNFRSF4):c.269-9C>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.300G>A (p.Thr100=)
NM_003327.4(TNFRSF4):c.30C>G (p.Arg10=)
NM_003327.4(TNFRSF4):c.30C>T (p.Arg10=)
NM_003327.4(TNFRSF4):c.314_315del (p.Thr105fs) rs1388272030
NM_003327.4(TNFRSF4):c.314_315insT (p.Val106fs)
NM_003327.4(TNFRSF4):c.318C>G (p.Val106=)
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.351C>T (p.Asp117=) rs146733335
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.360G>A (p.Lys120=) rs1260329169
NM_003327.4(TNFRSF4):c.36G>C (p.Pro12=)
NM_003327.4(TNFRSF4):c.370+15T>C
NM_003327.4(TNFRSF4):c.370+18G>A rs531691331
NM_003327.4(TNFRSF4):c.370+18G>C rs531691331
NM_003327.4(TNFRSF4):c.370+2T>C
NM_003327.4(TNFRSF4):c.370+8C>T rs376518717
NM_003327.4(TNFRSF4):c.370+9G>A
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.371-16C>A
NM_003327.4(TNFRSF4):c.371-16C>G rs34108055
NM_003327.4(TNFRSF4):c.371-16C>T rs34108055
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.387T>C (p.Pro129=) rs2100952972
NM_003327.4(TNFRSF4):c.393G>A (p.Gly131=)
NM_003327.4(TNFRSF4):c.398T>C (p.Phe133Ser)
NM_003327.4(TNFRSF4):c.402C>T (p.Ser134=)
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.426G>A (p.Lys142=)
NM_003327.4(TNFRSF4):c.437+20G>T
NM_003327.4(TNFRSF4):c.437+5G>A rs1557506739
NM_003327.4(TNFRSF4):c.437+8G>A rs566351921
NM_003327.4(TNFRSF4):c.438-14C>T
NM_003327.4(TNFRSF4):c.438-15C>T
NM_003327.4(TNFRSF4):c.438-17C>T
NM_003327.4(TNFRSF4):c.438-20C>T
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.495C>A (p.Ile165=)
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.543C>A (p.Gly181=) rs756542209
NM_003327.4(TNFRSF4):c.546C>T (p.Pro182=) rs2100950598
NM_003327.4(TNFRSF4):c.548del (p.Pro183fs)
NM_003327.4(TNFRSF4):c.549G>A (p.Pro183=) rs757761946
NM_003327.4(TNFRSF4):c.549G>T (p.Pro183=)
NM_003327.4(TNFRSF4):c.54C>T (p.Leu18=)
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+11C>T
NM_003327.4(TNFRSF4):c.634+12T>A
NM_003327.4(TNFRSF4):c.634+16C>T rs764775188
NM_003327.4(TNFRSF4):c.634+18_634+19delinsCC rs2100950235
NM_003327.4(TNFRSF4):c.634+5G>C
NM_003327.4(TNFRSF4):c.634+8C>T rs199647845
NM_003327.4(TNFRSF4):c.635-13C>A rs892501040
NM_003327.4(TNFRSF4):c.635-3C>T
NM_003327.4(TNFRSF4):c.635-44_635-15del rs2100950028
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.648C>T (p.Ala216=)
NM_003327.4(TNFRSF4):c.654C>A (p.Ile218=)
NM_003327.4(TNFRSF4):c.659GCCTGG[3] (p.Leu223_Val224insGlyLeu)
NM_003327.4(TNFRSF4):c.669G>A (p.Leu223=) rs1649129048
NM_003327.4(TNFRSF4):c.678del (p.Leu227fs) rs2100949816
NM_003327.4(TNFRSF4):c.687C>A (p.Gly229=) rs879206506
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.6C>T (p.Cys2=) rs202161001
NM_003327.4(TNFRSF4):c.702G>A (p.Leu234=) rs2100949704
NM_003327.4(TNFRSF4):c.738G>T (p.Leu246=) rs2100949567
NM_003327.4(TNFRSF4):c.751C>T (p.His251Tyr)
NM_003327.4(TNFRSF4):c.756G>A (p.Lys252=)
NM_003327.4(TNFRSF4):c.762T>C (p.Pro254=)
NM_003327.4(TNFRSF4):c.763+6T>A rs375875899
NM_003327.4(TNFRSF4):c.764-16C>T
NM_003327.4(TNFRSF4):c.764-1G>A rs773552376
NM_003327.4(TNFRSF4):c.767G>C (p.Gly256Ala) rs1649106016
NM_003327.4(TNFRSF4):c.774T>C (p.Ser258=)
NM_003327.4(TNFRSF4):c.779G>A (p.Arg260Gln)
NM_003327.4(TNFRSF4):c.779G>C (p.Arg260Pro)
NM_003327.4(TNFRSF4):c.78G>T (p.Val26=)
NM_003327.4(TNFRSF4):c.796G>A (p.Glu266Lys) rs2100948983
NM_003327.4(TNFRSF4):c.798G>A (p.Glu266=) rs1557505168
NM_003327.4(TNFRSF4):c.7G>A (p.Val3Met) rs751046781
NM_003327.4(TNFRSF4):c.807C>T (p.Asp269=)
NM_003327.4(TNFRSF4):c.809C>A (p.Ala270Asp)
NM_003327.4(TNFRSF4):c.81G>A (p.Thr27=)
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
NM_003327.4(TNFRSF4):c.96C>T (p.Val32=)

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