ClinVar Miner

List of variants in gene IL7R reported as uncertain significance for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 211
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HGVS dbSNP gnomAD frequency
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555 0.72524
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_002185.5(IL7R):c.*1974A>G rs145691961 0.00411
NM_002185.5(IL7R):c.*2413T>G rs192345351 0.00247
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00144
NM_002185.5(IL7R):c.*2294C>G rs563733521 0.00132
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735 0.00125
NM_002185.5(IL7R):c.*2065G>A rs541801251 0.00111
NM_002185.5(IL7R):c.*1702A>C rs147528974 0.00096
NM_002185.5(IL7R):c.*695C>A rs11567768 0.00096
NM_002185.5(IL7R):c.*1545G>C rs1494575 0.00054
NM_002185.5(IL7R):c.*807G>A rs886060536 0.00053
NM_002185.5(IL7R):c.*2242C>A rs757519422 0.00050
NM_002185.5(IL7R):c.*2183C>A rs753982280 0.00049
NM_002185.5(IL7R):c.152C>T (p.Ser51Leu) rs138482569 0.00047
NM_002185.5(IL7R):c.*1614T>C rs563820481 0.00046
NM_002185.5(IL7R):c.1357T>C (p.Ser453Pro) rs141919625 0.00038
NM_002185.5(IL7R):c.214G>C (p.Glu72Gln) rs148001159 0.00038
NM_002185.5(IL7R):c.1316C>G (p.Thr439Ser) rs148931962 0.00031
NM_002185.5(IL7R):c.*2873C>T rs377053917 0.00029
NM_002185.5(IL7R):c.*674A>G rs565860240 0.00024
NM_002185.5(IL7R):c.707G>A (p.Gly236Glu) rs201084372 0.00023
NM_002185.5(IL7R):c.1165G>C (p.Asp389His) rs143596606 0.00021
NM_002185.5(IL7R):c.*2817C>A rs113393512 0.00020
NM_002185.5(IL7R):c.419G>A (p.Arg140Gln) rs200373233 0.00019
NM_002185.5(IL7R):c.602A>G (p.Tyr201Cys) rs145810271 0.00017
NM_002185.5(IL7R):c.1022G>A (p.Gly341Glu) rs753614229 0.00014
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392 0.00014
NM_002185.5(IL7R):c.314G>A (p.Ser105Asn) rs150051812 0.00012
NM_002185.5(IL7R):c.760G>A (p.Ala254Thr) rs137868226 0.00012
NM_002185.5(IL7R):c.*304G>A rs896970443 0.00008
NM_002185.5(IL7R):c.*1489G>C rs774913403 0.00007
NM_002185.5(IL7R):c.104T>A (p.Leu35Gln) rs35967524 0.00007
NM_002185.5(IL7R):c.460C>T (p.His154Tyr) rs199727195 0.00007
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) rs770237630 0.00006
NM_002185.5(IL7R):c.340A>G (p.Lys114Glu) rs771667604 0.00006
NM_002185.5(IL7R):c.373A>G (p.Thr125Ala) rs145407742 0.00006
NM_002185.5(IL7R):c.508C>T (p.Arg170Cys) rs145210284 0.00006
NM_002185.5(IL7R):c.772A>T (p.Ile258Phe) rs200150755 0.00006
NM_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_002185.5(IL7R):c.617G>A (p.Arg206Gln) rs193922644 0.00005
NM_002185.5(IL7R):c.*35G>A rs758988107 0.00004
NM_002185.5(IL7R):c.*735C>T rs886060535 0.00004
NM_002185.5(IL7R):c.*845G>A rs1157306788 0.00004
NM_002185.5(IL7R):c.1048C>T (p.Pro350Ser) rs111803690 0.00004
NM_002185.5(IL7R):c.1063G>A (p.Val355Ile) rs749870381 0.00004
NM_002185.5(IL7R):c.232G>A (p.Val78Met) rs200687605 0.00004
NM_002185.5(IL7R):c.379+8G>A rs111370546 0.00004
NM_002185.5(IL7R):c.440T>C (p.Val147Ala) rs765765854 0.00004
NM_002185.5(IL7R):c.537G>A (p.Thr179=) rs758320927 0.00004
NM_002185.5(IL7R):c.800+10T>C rs202114203 0.00004
NM_002185.5(IL7R):c.908T>C (p.Phe303Ser) rs200107390 0.00004
NM_002185.5(IL7R):c.*1855T>C rs953683949 0.00003
NM_002185.5(IL7R):c.1135G>A (p.Ala379Thr) rs200570812 0.00003
NM_002185.5(IL7R):c.538C>T (p.His180Tyr) rs780435478 0.00003
NM_002185.5(IL7R):c.706+3A>G rs200036151 0.00003
NM_002185.5(IL7R):c.81T>A (p.Asn27Lys) rs753451294 0.00003
NM_002185.5(IL7R):c.952G>A (p.Asp318Asn) rs200521932 0.00003
NM_002185.5(IL7R):c.*1091G>A rs781372644 0.00002
NM_002185.5(IL7R):c.*2479A>G rs1270525952 0.00002
NM_002185.5(IL7R):c.*663T>A rs763740085 0.00002
NM_002185.5(IL7R):c.111C>T (p.Asp37=) rs763937095 0.00002
NM_002185.5(IL7R):c.178G>A (p.Glu60Lys) rs772586152 0.00002
NM_002185.5(IL7R):c.496G>A (p.Asp166Asn) rs776941426 0.00002
NM_002185.5(IL7R):c.653G>A (p.Ser218Asn) rs374232919 0.00002
NM_002185.5(IL7R):c.695A>G (p.Asn232Ser) rs199714011 0.00002
NM_002185.5(IL7R):c.744G>C (p.Leu248Phe) rs200086692 0.00002
NM_002185.5(IL7R):c.919C>A (p.Gln307Lys) rs751073911 0.00002
NM_002185.5(IL7R):c.990G>A (p.Gln330=) rs201093124 0.00002
NM_002185.5(IL7R):c.*1821C>T rs1302897570 0.00001
NM_002185.5(IL7R):c.*2408G>A rs1318974974 0.00001
NM_002185.5(IL7R):c.*539C>T rs886060532 0.00001
NM_002185.5(IL7R):c.*646C>T rs569906853 0.00001
NM_002185.5(IL7R):c.*862C>T rs886060537 0.00001
NM_002185.5(IL7R):c.1070C>T (p.Thr357Ile) rs1235095542 0.00001
NM_002185.5(IL7R):c.1130G>T (p.Cys377Phe) rs757426044 0.00001
NM_002185.5(IL7R):c.1139C>G (p.Pro380Arg) rs780521625 0.00001
NM_002185.5(IL7R):c.1237A>T (p.Ser413Cys) rs368172701 0.00001
NM_002185.5(IL7R):c.1238G>C (p.Ser413Thr) rs756406426 0.00001
NM_002185.5(IL7R):c.1274T>C (p.Ile425Thr) rs1177291745 0.00001
NM_002185.5(IL7R):c.1355T>C (p.Met452Thr) rs1256864447 0.00001
NM_002185.5(IL7R):c.149G>T (p.Gly50Val) rs202083738 0.00001
NM_002185.5(IL7R):c.164T>C (p.Leu55Pro) rs1273552553 0.00001
NM_002185.5(IL7R):c.212T>C (p.Phe71Ser) rs147423300 0.00001
NM_002185.5(IL7R):c.313A>C (p.Ser105Arg) rs199742437 0.00001
NM_002185.5(IL7R):c.32T>C (p.Val11Ala) rs539820821 0.00001
NM_002185.5(IL7R):c.366C>A (p.Asp122Glu) rs140473900 0.00001
NM_002185.5(IL7R):c.418C>T (p.Arg140Trp) rs773491081 0.00001
NM_002185.5(IL7R):c.433G>A (p.Asp145Asn) rs201790329 0.00001
NM_002185.5(IL7R):c.515A>G (p.Glu172Gly) rs199654814 0.00001
NM_002185.5(IL7R):c.53T>C (p.Val18Ala) rs1472882776 0.00001
NM_002185.5(IL7R):c.554G>T (p.Ser185Ile) rs1188286965 0.00001
NM_002185.5(IL7R):c.590C>T (p.Pro197Leu) rs587778404 0.00001
NM_002185.5(IL7R):c.593C>T (p.Ala198Val) rs1580862263 0.00001
NM_002185.5(IL7R):c.625C>T (p.Pro209Ser) rs748643880 0.00001
NM_002185.5(IL7R):c.682A>C (p.Thr228Pro) rs762736419 0.00001
NM_002185.5(IL7R):c.788T>C (p.Leu263Ser) rs1369125529 0.00001
NM_002185.5(IL7R):c.814G>A (p.Val272Ile) rs369971728 0.00001
NM_002185.5(IL7R):c.83-2A>T rs886060531 0.00001
NM_002185.5(IL7R):c.*1079C>A rs886060538
NM_002185.5(IL7R):c.*1198G>A rs1760251460
NM_002185.5(IL7R):c.*1548A>T rs886060539
NM_002185.5(IL7R):c.*2068T>G rs1332372176
NM_002185.5(IL7R):c.*2275C>T rs886060541
NM_002185.5(IL7R):c.*266dup rs202167692
NM_002185.5(IL7R):c.*3050G>T rs1760300993
NM_002185.5(IL7R):c.*3112A>G rs1760302344
NM_002185.5(IL7R):c.*554G>A rs886060533
NM_002185.5(IL7R):c.*574G>T rs886060534
NM_002185.5(IL7R):c.*676T>C rs762308822
NM_002185.5(IL7R):c.*86A>C rs202075594
NM_002185.5(IL7R):c.1014G>C (p.Gln338His) rs1760201906
NM_002185.5(IL7R):c.1020_1043del (p.Gly341_Asn348del) rs2149905482
NM_002185.5(IL7R):c.1043A>G (p.Asn348Ser) rs41270321
NM_002185.5(IL7R):c.1046G>C (p.Cys349Ser)
NM_002185.5(IL7R):c.1046G>T (p.Cys349Phe) rs200927791
NM_002185.5(IL7R):c.1051T>C (p.Ser351Pro) rs1760204380
NM_002185.5(IL7R):c.1080C>A (p.Ser360Arg) rs1760205911
NM_002185.5(IL7R):c.1082T>A (p.Phe361Tyr)
NM_002185.5(IL7R):c.1082T>C (p.Phe361Ser) rs200061456
NM_002185.5(IL7R):c.1097C>A (p.Ser366Tyr)
NM_002185.5(IL7R):c.1097C>T (p.Ser366Phe)
NM_002185.5(IL7R):c.1106G>A (p.Cys369Tyr) rs758381888
NM_002185.5(IL7R):c.1106G>T (p.Cys369Phe)
NM_002185.5(IL7R):c.1114G>A (p.Gly372Arg)
NM_002185.5(IL7R):c.1134C>G (p.Asp378Glu) rs150593442
NM_002185.5(IL7R):c.1164A>G (p.Leu388=)
NM_002185.5(IL7R):c.1180G>A (p.Gly394Ser) rs1230012813
NM_002185.5(IL7R):c.11T>C (p.Leu4Pro)
NM_002185.5(IL7R):c.1207G>A (p.Asp403Asn) rs1760214751
NM_002185.5(IL7R):c.1232C>A (p.Thr411Lys) rs1760216117
NM_002185.5(IL7R):c.1241C>A (p.Thr414Lys) rs2229232
NM_002185.5(IL7R):c.1246C>A (p.Pro416Thr) rs2149906130
NM_002185.5(IL7R):c.1250C>T (p.Pro417Leu) rs201661275
NM_002185.5(IL7R):c.1252C>G (p.Pro418Ala)
NM_002185.5(IL7R):c.1256T>C (p.Phe419Ser)
NM_002185.5(IL7R):c.128A>G (p.Tyr43Cys)
NM_002185.5(IL7R):c.1334AAG[2] (p.Glu447del)
NM_002185.5(IL7R):c.135G>C (p.Gln45His) rs200464578
NM_002185.5(IL7R):c.1367A>G (p.Tyr456Cys) rs1580865092
NM_002185.5(IL7R):c.1372A>T (p.Asn458Tyr)
NM_002185.5(IL7R):c.137T>G (p.Leu46Trp)
NM_002185.5(IL7R):c.145A>G (p.Asn49Asp)
NM_002185.5(IL7R):c.156_157delinsTT (p.Gln52_His53delinsHisTyr) rs1580851810
NM_002185.5(IL7R):c.169T>C (p.Cys57Arg) rs1759791006
NM_002185.5(IL7R):c.16A>G (p.Thr6Ala) rs1580848036
NM_002185.5(IL7R):c.205C>G (p.Leu69Val) rs1580851879
NM_002185.5(IL7R):c.221+7G>A rs200937717
NM_002185.5(IL7R):c.227C>A (p.Ala76Asp) rs755030275
NM_002185.5(IL7R):c.227C>T (p.Ala76Val)
NM_002185.5(IL7R):c.233T>C (p.Val78Ala) rs1301073730
NM_002185.5(IL7R):c.236A>T (p.Glu79Val)
NM_002185.5(IL7R):c.251A>G (p.Asn84Ser) rs1759963721
NM_002185.5(IL7R):c.26G>C (p.Gly9Ala)
NM_002185.5(IL7R):c.273A>G (p.Ile91Met)
NM_002185.5(IL7R):c.307G>A (p.Gly103Arg) rs201106853
NM_002185.5(IL7R):c.32T>G (p.Val11Gly)
NM_002185.5(IL7R):c.350C>G (p.Thr117Ser)
NM_002185.5(IL7R):c.359A>T (p.Lys120Ile) rs201710684
NM_002185.5(IL7R):c.364G>C (p.Asp122His)
NM_002185.5(IL7R):c.376A>C (p.Ile126Leu) rs201207454
NM_002185.5(IL7R):c.380T>G (p.Val127Gly) rs751109965
NM_002185.5(IL7R):c.392C>T (p.Ala131Val) rs1760061386
NM_002185.5(IL7R):c.416A>G (p.Tyr139Cys)
NM_002185.5(IL7R):c.419G>C (p.Arg140Pro) rs200373233
NM_002185.5(IL7R):c.41T>C (p.Leu14Ser) rs1759661333
NM_002185.5(IL7R):c.442G>A (p.Val148Met) rs200332345
NM_002185.5(IL7R):c.473A>G (p.Lys158Arg)
NM_002185.5(IL7R):c.478G>A (p.Val160Ile) rs1760065433
NM_002185.5(IL7R):c.479T>C (p.Val160Ala) rs1393735942
NM_002185.5(IL7R):c.490A>T (p.Met164Leu)
NM_002185.5(IL7R):c.491T>A (p.Met164Lys) rs771957502
NM_002185.5(IL7R):c.498T>A (p.Asp166Glu) rs1368629105
NM_002185.5(IL7R):c.512A>C (p.Gln171Pro) rs531875566
NM_002185.5(IL7R):c.517A>C (p.Lys173Gln) rs749945425
NM_002185.5(IL7R):c.536C>T (p.Thr179Met)
NM_002185.5(IL7R):c.537+6T>C rs1760068715
NM_002185.5(IL7R):c.553A>T (p.Ser185Cys) rs1057519759
NM_002185.5(IL7R):c.565A>G (p.Thr189Ala) rs2149903315
NM_002185.5(IL7R):c.590C>A (p.Pro197Gln)
NM_002185.5(IL7R):c.59G>A (p.Gly20Glu) rs1759663249
NM_002185.5(IL7R):c.600G>A (p.Met200Ile) rs754172661
NM_002185.5(IL7R):c.628G>A (p.Asp210Asn)
NM_002185.5(IL7R):c.634T>C (p.Tyr212His) rs1760127712
NM_002185.5(IL7R):c.668G>T (p.Ser223Ile) rs2149903454
NM_002185.5(IL7R):c.706+5G>C rs181084023
NM_002185.5(IL7R):c.706G>C (p.Gly236Arg) rs2149903496
NM_002185.5(IL7R):c.714G>A (p.Met238Ile) rs1057520828
NM_002185.5(IL7R):c.719C>T (p.Pro240Leu) rs1760154761
NM_002185.5(IL7R):c.737G>A (p.Ser246Asn) rs779397627
NM_002185.5(IL7R):c.748T>G (p.Phe250Val) rs1000207637
NM_002185.5(IL7R):c.799A>C (p.Arg267=) rs764528268
NM_002185.5(IL7R):c.800+5C>A
NM_002185.5(IL7R):c.82+14A>T
NM_002185.5(IL7R):c.82+3del rs770563855
NM_002185.5(IL7R):c.83-18A>G rs193922646
NM_002185.5(IL7R):c.83-2A>G rs886060531
NM_002185.5(IL7R):c.83-3C>T rs1759786514
NM_002185.5(IL7R):c.832G>A (p.Asp278Asn)
NM_002185.5(IL7R):c.853C>A (p.His285Asn) rs1022245698
NM_002185.5(IL7R):c.854A>G (p.His285Arg) rs2149904828
NM_002185.5(IL7R):c.867del (p.Lys289fs)
NM_002185.5(IL7R):c.877-1G>A rs1760195478
NM_002185.5(IL7R):c.882A>C (p.Leu294Phe) rs193922647
NM_002185.5(IL7R):c.885del (p.Asn295fs) rs786205646
NM_002185.5(IL7R):c.898_902del (p.Pro300fs)
NM_002185.5(IL7R):c.916T>A (p.Cys306Ser) rs748055663
NM_002185.5(IL7R):c.917G>A (p.Cys306Tyr) rs1056726866
NM_002185.5(IL7R):c.952G>C (p.Asp318His) rs200521932
NM_002185.5(IL7R):c.980C>T (p.Thr327Met)
NM_002185.5(IL7R):c.982T>C (p.Phe328Leu) rs1760200356

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