ClinVar Miner

List of variants in gene RAG2 reported as uncertain significance for Combined immunodeficiency with skin granulomas; Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Gene type:
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Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274 0.00025
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr) rs151269922 0.00021
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103 0.00019
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_000536.4(RAG2):c.1205A>G (p.Tyr402Cys) rs199798089 0.00009
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe) rs374781438 0.00006
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys) rs746253611 0.00006
NM_000536.4(RAG2):c.157A>C (p.Asn53His) rs774097244 0.00005
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys) rs377569152 0.00003
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys) rs189020262 0.00003
NM_000536.4(RAG2):c.431T>C (p.Val144Ala) rs1851090348 0.00003
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669 0.00003
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 0.00002
NM_000536.4(RAG2):c.119C>A (p.Ser40Tyr) rs762460908 0.00002
NM_000536.4(RAG2):c.133G>A (p.Val45Ile) rs770312622 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349 0.00002
NM_000536.4(RAG2):c.296C>G (p.Pro99Arg) rs747968724 0.00002
NM_000536.4(RAG2):c.326T>A (p.Val109Asp) rs201258007 0.00002
NM_000536.4(RAG2):c.583T>C (p.Tyr195His) rs1479328926 0.00002
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser) rs368935791 0.00002
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729 0.00002
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile) rs766318035 0.00001
NM_000536.4(RAG2):c.1120G>C (p.Asp374His) rs772618891 0.00001
NM_000536.4(RAG2):c.1163C>A (p.Ala388Glu) rs958911693 0.00001
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala) rs757081652 0.00001
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639 0.00001
NM_000536.4(RAG2):c.1367C>A (p.Ala456Asp) rs1479440369 0.00001
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323 0.00001
NM_000536.4(RAG2):c.1526G>T (p.Gly509Val) rs779267024 0.00001
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe) rs754150018 0.00001
NM_000536.4(RAG2):c.1544C>A (p.Thr515Asn) rs1017593785 0.00001
NM_000536.4(RAG2):c.25A>G (p.Ser9Gly) rs1851108332 0.00001
NM_000536.4(RAG2):c.268C>G (p.Gln90Glu) rs149769148 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln) rs779879427 0.00001
NM_000536.4(RAG2):c.695A>G (p.Asn232Ser) rs550672306 0.00001
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser) rs1254138271 0.00001
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser) rs918016464 0.00001
NM_000536.4(RAG2):c.752T>C (p.Val251Ala) rs755587413 0.00001
NM_000536.4(RAG2):c.776C>T (p.Ser259Phe) rs758697173 0.00001
NM_000536.4(RAG2):c.941G>T (p.Ser314Ile) rs766257880 0.00001
NM_000536.4(RAG2):c.1046A>G (p.Lys349Arg)
NM_000536.4(RAG2):c.1076A>G (p.Gln359Arg)
NM_000536.4(RAG2):c.1081A>G (p.Thr361Ala)
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu) rs1851061517
NM_000536.4(RAG2):c.1096C>G (p.Gln366Glu)
NM_000536.4(RAG2):c.109C>T (p.Pro37Ser)
NM_000536.4(RAG2):c.1117G>A (p.Gly373Arg)
NM_000536.4(RAG2):c.1127C>G (p.Thr376Ser) rs192958391
NM_000536.4(RAG2):c.1130C>T (p.Pro377Leu)
NM_000536.4(RAG2):c.1145A>G (p.Glu382Gly)
NM_000536.4(RAG2):c.116G>T (p.Arg39Ile) rs2133316269
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser) rs1851056904
NM_000536.4(RAG2):c.119C>T (p.Ser40Phe)
NM_000536.4(RAG2):c.1221AGA[1] (p.Glu408del) rs1485140631
NM_000536.4(RAG2):c.1240_1241delinsAA (p.Gly414Asn) rs2133311785
NM_000536.4(RAG2):c.125C>T (p.Pro42Leu) rs2133316235
NM_000536.4(RAG2):c.1282A>C (p.Asn428His) rs757316422
NM_000536.4(RAG2):c.1283A>T (p.Asn428Ile)
NM_000536.4(RAG2):c.1346G>C (p.Gly449Ala)
NM_000536.4(RAG2):c.1384G>A (p.Ala462Thr)
NM_000536.4(RAG2):c.1391G>C (p.Arg464Pro)
NM_000536.4(RAG2):c.13A>T (p.Met5Leu) rs1851109238
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.140_141delinsTG (p.His47Leu)
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg) rs1413100202
NM_000536.4(RAG2):c.1444G>A (p.Val482Met)
NM_000536.4(RAG2):c.1447G>A (p.Glu483Lys) rs1204454135
NM_000536.4(RAG2):c.1467C>G (p.His489Gln)
NM_000536.4(RAG2):c.1475A>G (p.Gln492Arg)
NM_000536.4(RAG2):c.1478G>T (p.Arg493Ile) rs2037101
NM_000536.4(RAG2):c.1486C>T (p.Pro496Ser) rs2133310879
NM_000536.4(RAG2):c.1501C>G (p.Pro501Ala) rs781104028
NM_000536.4(RAG2):c.1531G>T (p.Gly511Ter) rs757841294
NM_000536.4(RAG2):c.1532del (p.Gly511fs) rs2133310689
NM_000536.4(RAG2):c.1546C>T (p.Pro516Ser)
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe) rs1169944983
NM_000536.4(RAG2):c.1565T>C (p.Leu522Pro) rs764457023
NM_000536.4(RAG2):c.156T>A (p.His52Gln)
NM_000536.4(RAG2):c.1581T>G (p.Asp527Glu) rs1851039632
NM_000536.4(RAG2):c.161A>G (p.His54Arg)
NM_000536.4(RAG2):c.16G>A (p.Val6Ile)
NM_000536.4(RAG2):c.186C>G (p.Phe62Leu)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile) rs762369105
NM_000536.4(RAG2):c.253G>C (p.Glu85Gln)
NM_000536.4(RAG2):c.265C>T (p.His89Tyr) rs918106600
NM_000536.4(RAG2):c.286G>A (p.Gly96Arg)
NM_000536.4(RAG2):c.292A>G (p.Thr98Ala)
NM_000536.4(RAG2):c.356A>T (p.Lys119Met)
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile) rs764684990
NM_000536.4(RAG2):c.376G>C (p.Glu126Gln)
NM_000536.4(RAG2):c.395A>G (p.Asp132Gly) rs375033313
NM_000536.4(RAG2):c.407C>T (p.Ala136Val) rs1851091277
NM_000536.4(RAG2):c.434T>C (p.Val145Ala) rs1851090191
NM_000536.4(RAG2):c.446G>A (p.Gly149Glu) rs1487032318
NM_000536.4(RAG2):c.456G>A (p.Met152Ile) rs2133314764
NM_000536.4(RAG2):c.461T>C (p.Val154Ala)
NM_000536.4(RAG2):c.464T>A (p.Leu155His) rs1064793250
NM_000536.4(RAG2):c.473G>T (p.Gly158Val)
NM_000536.4(RAG2):c.486G>A (p.Met162Ile)
NM_000536.4(RAG2):c.497A>G (p.His166Arg) rs1851085524
NM_000536.4(RAG2):c.516G>C (p.Trp172Cys)
NM_000536.4(RAG2):c.532T>C (p.Cys178Arg)
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.562G>C (p.Glu188Gln) rs1554947160
NM_000536.4(RAG2):c.598C>A (p.Leu200Ile) rs2133314147
NM_000536.4(RAG2):c.644C>A (p.Thr215Asn) rs35691292
NM_000536.4(RAG2):c.647T>A (p.Ile216Asn) rs2133314014
NM_000536.4(RAG2):c.65T>C (p.Met22Thr)
NM_000536.4(RAG2):c.671T>G (p.Leu224Arg)
NM_000536.4(RAG2):c.718C>G (p.Leu240Val)
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro) rs1851078112
NM_000536.4(RAG2):c.722C>T (p.Pro241Leu)
NM_000536.4(RAG2):c.740T>A (p.Val247Glu) rs2133313736
NM_000536.4(RAG2):c.744T>A (p.Asn248Lys)
NM_000536.4(RAG2):c.764G>T (p.Gly255Val) rs780531526
NM_000536.4(RAG2):c.766A>C (p.Ile256Leu)
NM_000536.4(RAG2):c.772G>A (p.Val258Ile)
NM_000536.4(RAG2):c.802A>C (p.Asn268His) rs1851075681
NM_000536.4(RAG2):c.80A>G (p.Gln27Arg) rs1851105662
NM_000536.4(RAG2):c.814G>A (p.Val272Ile) rs117899975
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys) rs772880437
NM_000536.4(RAG2):c.843T>A (p.Asn281Lys)
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys) rs1851073997
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser) rs770231022
NM_000536.4(RAG2):c.904A>T (p.Met302Leu) rs1851071285
NM_000536.4(RAG2):c.907G>A (p.Glu303Lys) rs2133313060
NM_000536.4(RAG2):c.916G>T (p.Asp306Tyr)
NM_000536.4(RAG2):c.931A>G (p.Ile311Val)
NM_000536.4(RAG2):c.932T>C (p.Ile311Thr) rs1851070055
NM_000536.4(RAG2):c.971A>G (p.Asn324Ser)
NM_000536.4(RAG2):c.977C>T (p.Thr326Ile) rs781129987
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser) rs1851066103
NM_000536.4(RAG2):c.995C>G (p.Pro332Arg)
NM_000536.4(RAG2):c.998G>A (p.Gly333Glu)

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