ClinVar Miner

List of variants in gene RAG2 studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
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Gene type:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.*136A>C rs763674526
NM_000536.4(RAG2):c.*144G>T rs12280515
NM_000536.4(RAG2):c.*183C>A rs12280564
NM_000536.4(RAG2):c.*227T>C rs113343318
NM_000536.4(RAG2):c.*328A>G rs10836573
NM_000536.4(RAG2):c.*33G>T rs886048270
NM_000536.4(RAG2):c.*348C>G
NM_000536.4(RAG2):c.*522C>G rs886048267
NM_000536.4(RAG2):c.*52T>A rs546979744
NM_000536.4(RAG2):c.*582T>C
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer)
NM_000536.4(RAG2):c.1074G>A (p.Glu358=)
NM_000536.4(RAG2):c.1086C>G (p.Phe362Leu)
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1120G>C (p.Asp374His)
NM_000536.4(RAG2):c.1131C>T (p.Pro377=) rs777940606
NM_000536.4(RAG2):c.1138G>T (p.Asp380Tyr)
NM_000536.4(RAG2):c.1147G>A (p.Glu383Lys)
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1184G>C (p.Gly395Ala)
NM_000536.4(RAG2):c.1185_1187TGA[2] (p.Asp397del) rs567942993
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly)
NM_000536.4(RAG2):c.1196T>C (p.Phe399Ser)
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926
NM_000536.4(RAG2):c.1209T>C (p.Asn403=)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1253C>T (p.Thr418Ile) rs781487639
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592
NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575
NM_000536.4(RAG2):c.1390C>T (p.Arg464Cys)
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1396C>T (p.Leu466Phe) rs1590713653
NM_000536.4(RAG2):c.1403A>G (p.His468Arg) rs751064709
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146
NM_000536.4(RAG2):c.1414G>A (p.Gly472Arg)
NM_000536.4(RAG2):c.141T>G (p.His47Gln) rs768914369
NM_000536.4(RAG2):c.1421A>G (p.Asn474Ser) rs757913323
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611
NM_000536.4(RAG2):c.1483C>T (p.Leu495=) rs772985232
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter)
NM_000536.4(RAG2):c.14T>A (p.Met5Lys) rs143415103
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762
NM_000536.4(RAG2):c.1542G>C (p.Leu514Phe)
NM_000536.4(RAG2):c.157A>C (p.Asn53His)
NM_000536.4(RAG2):c.174G>A (p.Lys58=)
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.238T>A (p.Phe80Ile)
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349
NM_000536.4(RAG2):c.243del (p.Gly82fs)
NM_000536.4(RAG2):c.265C>T (p.His89Tyr)
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797
NM_000536.4(RAG2):c.293del (p.Thr98fs)
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017
NM_000536.4(RAG2):c.362C>T (p.Thr121Ile)
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817
NM_000536.4(RAG2):c.385_389del (p.Leu129fs)
NM_000536.4(RAG2):c.419A>G (p.His140Arg)
NM_000536.4(RAG2):c.431T>C (p.Val144Ala)
NM_000536.4(RAG2):c.443G>A (p.Arg148Gln)
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100
NM_000536.4(RAG2):c.497A>G (p.His166Arg)
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser)
NM_000536.4(RAG2):c.53G>T (p.Gly18Val)
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.595G>T (p.Glu199Ter) rs748727021
NM_000536.4(RAG2):c.638dup (p.Asn213fs)
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.68A>G (p.Asn23Ser) rs751073669
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser)
NM_000536.4(RAG2):c.718C>T (p.Leu240Phe)
NM_000536.4(RAG2):c.719T>C (p.Leu240Pro)
NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser)
NM_000536.4(RAG2):c.809A>G (p.Glu270Gly) rs149241274
NM_000536.4(RAG2):c.814G>A (p.Val272Ile)
NM_000536.4(RAG2):c.830A>G (p.Tyr277Cys) rs772880437
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys)
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_000536.4(RAG2):c.884A>G (p.Asn295Ser)
NM_000536.4(RAG2):c.898C>T (p.Arg300Cys)
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320
NM_000536.4(RAG2):c.908A>G (p.Glu303Gly) rs757524729
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671
NM_000536.4(RAG2):c.948A>G (p.Ile316Met) rs545910812
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.983T>C (p.Phe328Ser)

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