ClinVar Miner

List of variants in gene RAG2 reported as likely benign 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:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000536.4(RAG2):c.35T>C (p.Ile12Thr) rs146584017 0.00062
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000536.4(RAG2):c.1517G>A (p.Arg506His) rs144812762 0.00016
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_000536.4(RAG2):c.899G>A (p.Arg300His) rs138857320 0.00014
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000536.4(RAG2):c.334A>G (p.Ile112Val) rs373703454 0.00010
NM_000536.4(RAG2):c.369C>T (p.Arg123=) rs369277180 0.00010
NM_000536.4(RAG2):c.1083A>G (p.Thr361=) rs371025129 0.00007
NM_000536.4(RAG2):c.213T>C (p.Pro71=) rs751114608 0.00006
NM_000536.4(RAG2):c.1251T>C (p.Ile417=) rs748248673 0.00005
NM_000536.4(RAG2):c.417T>G (p.Gly139=) rs373022390 0.00005
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
NM_000536.4(RAG2):c.1029C>T (p.Phe343=) rs747177680 0.00002
NM_000536.4(RAG2):c.1191T>C (p.Asp397=) rs752248630 0.00002
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000536.4(RAG2):c.1131C>T (p.Pro377=) rs777940606 0.00001
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) rs1351286949 0.00001
NM_000536.4(RAG2):c.1323C>T (p.Pro441=) rs370624669 0.00001
NM_000536.4(RAG2):c.1365T>C (p.His455=) rs369276846 0.00001
NM_000536.4(RAG2):c.1404T>C (p.His468=) rs528679382 0.00001
NM_000536.4(RAG2):c.1431C>T (p.Tyr477=) rs750878183 0.00001
NM_000536.4(RAG2):c.1483C>T (p.Leu495=) rs772985232 0.00001
NM_000536.4(RAG2):c.1485A>T (p.Leu495=) rs1416589328 0.00001
NM_000536.4(RAG2):c.288G>A (p.Gly96=) rs1312473059 0.00001
NM_000536.4(RAG2):c.393A>C (p.Gly131=) rs1239959464 0.00001
NM_000536.4(RAG2):c.39C>A (p.Ala13=) rs753764938 0.00001
NM_000536.4(RAG2):c.528T>C (p.Ala176=) rs762907049 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.687G>A (p.Arg229=) rs772031809 0.00001
NM_000536.4(RAG2):c.750A>G (p.Thr250=) rs747690737 0.00001
NM_000536.4(RAG2):c.756G>A (p.Leu252=) rs751957269 0.00001
NM_000536.4(RAG2):c.996A>G (p.Pro332=) rs771084047 0.00001
NM_000536.4(RAG2):c.1005T>C (p.Asn335=)
NM_000536.4(RAG2):c.1020A>C (p.Ser340=) rs2133312644
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu) rs367615315
NM_000536.4(RAG2):c.1035C>T (p.Phe345=)
NM_000536.4(RAG2):c.1038T>C (p.Tyr346=) rs1174918583
NM_000536.4(RAG2):c.1062T>C (p.Asp354=)
NM_000536.4(RAG2):c.1068T>C (p.Asn356=)
NM_000536.4(RAG2):c.111C>A (p.Pro37=) rs1851104820
NM_000536.4(RAG2):c.1140C>T (p.Asp380=) rs1851059503
NM_000536.4(RAG2):c.1149A>G (p.Glu383=)
NM_000536.4(RAG2):c.114A>G (p.Lys38=)
NM_000536.4(RAG2):c.1158C>T (p.Phe386=)
NM_000536.4(RAG2):c.1164A>G (p.Ala388=) rs1230311707
NM_000536.4(RAG2):c.1212A>G (p.Glu404=)
NM_000536.4(RAG2):c.1221A>G (p.Glu407=) rs2133311856
NM_000536.4(RAG2):c.1227T>C (p.Asp409=)
NM_000536.4(RAG2):c.1230G>A (p.Glu410=)
NM_000536.4(RAG2):c.1236G>A (p.Glu412=)
NM_000536.4(RAG2):c.123C>T (p.Cys41=)
NM_000536.4(RAG2):c.1242C>A (p.Gly414=) rs2133311776
NM_000536.4(RAG2):c.1245C>T (p.Tyr415=) rs2133311764
NM_000536.4(RAG2):c.1251T>A (p.Ile417=) rs748248673
NM_000536.4(RAG2):c.1269T>C (p.Cys423=)
NM_000536.4(RAG2):c.126C>T (p.Pro42=)
NM_000536.4(RAG2):c.1284C>T (p.Asn428=) rs2133311606
NM_000536.4(RAG2):c.129T>C (p.Thr43=)
NM_000536.4(RAG2):c.1308T>C (p.Thr436=)
NM_000536.4(RAG2):c.1326C>T (p.Ala442=) rs1323571407
NM_000536.4(RAG2):c.1332C>A (p.Ile444=)
NM_000536.4(RAG2):c.1338C>T (p.Cys446=) rs1564995660
NM_000536.4(RAG2):c.1344T>C (p.His448=) rs2133311351
NM_000536.4(RAG2):c.1347G>A (p.Gly449=)
NM_000536.4(RAG2):c.1362C>T (p.Val454=) rs2133311306
NM_000536.4(RAG2):c.1368T>G (p.Ala456=)
NM_000536.4(RAG2):c.1381C>T (p.Leu461=) rs1342591484
NM_000536.4(RAG2):c.1389A>G (p.Glu463=) rs2133311205
NM_000536.4(RAG2):c.138C>T (p.Phe46=)
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_000536.4(RAG2):c.1392C>T (p.Arg464=)
NM_000536.4(RAG2):c.1395A>C (p.Thr465=) rs2133311165
NM_000536.4(RAG2):c.1405C>T (p.Leu469=)
NM_000536.4(RAG2):c.1413A>C (p.Ala471=)
NM_000536.4(RAG2):c.1449G>A (p.Glu483=)
NM_000536.4(RAG2):c.1461T>G (p.Ala487=)
NM_000536.4(RAG2):c.1470T>G (p.Thr490=) rs2133310961
NM_000536.4(RAG2):c.1473C>G (p.Pro491=)
NM_000536.4(RAG2):c.1473C>T (p.Pro491=) rs1234811101
NM_000536.4(RAG2):c.1488C>T (p.Pro496=) rs2133310869
NM_000536.4(RAG2):c.1491A>G (p.Leu497=) rs2133310853
NM_000536.4(RAG2):c.1497G>A (p.Lys499=) rs2133310820
NM_000536.4(RAG2):c.1515C>A (p.Leu505=) rs577434324
NM_000536.4(RAG2):c.1515C>T (p.Leu505=)
NM_000536.4(RAG2):c.1518T>C (p.Arg506=) rs2133310732
NM_000536.4(RAG2):c.1527T>G (p.Gly509=) rs2133310703
NM_000536.4(RAG2):c.1533A>G (p.Gly511=) rs2133310675
NM_000536.4(RAG2):c.153G>A (p.Lys51=)
NM_000536.4(RAG2):c.1545T>G (p.Thr515=)
NM_000536.4(RAG2):c.1560C>T (p.Ser520=) rs1310165990
NM_000536.4(RAG2):c.1566T>G (p.Leu522=) rs2133310595
NM_000536.4(RAG2):c.1573T>C (p.Leu525=) rs1851039823
NM_000536.4(RAG2):c.1575G>A (p.Leu525=)
NM_000536.4(RAG2):c.162T>C (p.His54=) rs2133316015
NM_000536.4(RAG2):c.165C>T (p.Val55=) rs777813230
NM_000536.4(RAG2):c.180A>C (p.Thr60=)
NM_000536.4(RAG2):c.180A>G (p.Thr60=) rs1345213365
NM_000536.4(RAG2):c.195T>C (p.Asp65=) rs2133315880
NM_000536.4(RAG2):c.207C>G (p.Leu69=) rs2133315845
NM_000536.4(RAG2):c.207C>T (p.Leu69=)
NM_000536.4(RAG2):c.21A>G (p.Thr7=)
NM_000536.4(RAG2):c.228C>T (p.Ala76=)
NM_000536.4(RAG2):c.231T>C (p.Thr77=) rs2133315742
NM_000536.4(RAG2):c.237A>C (p.Thr79=)
NM_000536.4(RAG2):c.243A>G (p.Lys81=)
NM_000536.4(RAG2):c.24C>G (p.Val8=)
NM_000536.4(RAG2):c.24C>T (p.Val8=) rs2133316604
NM_000536.4(RAG2):c.258T>C (p.Ser86=) rs2133315667
NM_000536.4(RAG2):c.264G>A (p.Lys88=)
NM_000536.4(RAG2):c.270A>G (p.Gln90=)
NM_000536.4(RAG2):c.273C>T (p.Tyr91=)
NM_000536.4(RAG2):c.276C>A (p.Ile92=) rs2133315563
NM_000536.4(RAG2):c.300C>T (p.Asn100=)
NM_000536.4(RAG2):c.306G>A (p.Glu102=)
NM_000536.4(RAG2):c.312A>C (p.Ser104=) rs2133315415
NM_000536.4(RAG2):c.321T>A (p.Ile107=)
NM_000536.4(RAG2):c.321T>C (p.Ile107=)
NM_000536.4(RAG2):c.327C>T (p.Val109=)
NM_000536.4(RAG2):c.336T>C (p.Ile112=) rs2133315304
NM_000536.4(RAG2):c.375A>G (p.Thr125=)
NM_000536.4(RAG2):c.396T>C (p.Asp132=) rs2133315007
NM_000536.4(RAG2):c.39C>T (p.Ala13=) rs753764938
NM_000536.4(RAG2):c.409A>C (p.Arg137=)
NM_000536.4(RAG2):c.429T>C (p.Asn143=) rs2133314898
NM_000536.4(RAG2):c.435G>A (p.Val145=) rs1851090044
NM_000536.4(RAG2):c.438C>T (p.Tyr146=)
NM_000536.4(RAG2):c.442C>A (p.Arg148=)
NM_000536.4(RAG2):c.447G>A (p.Gly149=) rs2133314798
NM_000536.4(RAG2):c.459T>A (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.459T>C (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.480A>G (p.Ser160=) rs1405801746
NM_000536.4(RAG2):c.483C>T (p.Tyr161=) rs2133314575
NM_000536.4(RAG2):c.489T>G (p.Pro163=) rs2133314533
NM_000536.4(RAG2):c.507A>T (p.Thr169=) rs2133314493
NM_000536.4(RAG2):c.510A>G (p.Glu170=)
NM_000536.4(RAG2):c.513A>G (p.Lys171=)
NM_000536.4(RAG2):c.519T>C (p.Asn173=)
NM_000536.4(RAG2):c.51A>G (p.Pro17=) rs569058130
NM_000536.4(RAG2):c.525A>C (p.Val175=)
NM_000536.4(RAG2):c.543T>C (p.Cys181=) rs1851083875
NM_000536.4(RAG2):c.558T>C (p.Asp186=) rs2133314307
NM_000536.4(RAG2):c.564A>G (p.Glu188=) rs1171394750
NM_000536.4(RAG2):c.576T>C (p.Ala192=)
NM_000536.4(RAG2):c.579A>G (p.Thr193=) rs2133314241
NM_000536.4(RAG2):c.585C>T (p.Tyr195=) rs1851082204
NM_000536.4(RAG2):c.60A>G (p.Ser20=)
NM_000536.4(RAG2):c.624C>T (p.Val208=)
NM_000536.4(RAG2):c.642C>T (p.Asp214=)
NM_000536.4(RAG2):c.648C>A (p.Ile216=) rs1851080584
NM_000536.4(RAG2):c.651T>C (p.Tyr217=) rs887816498
NM_000536.4(RAG2):c.666T>C (p.His222=)
NM_000536.4(RAG2):c.672T>C (p.Leu224=)
NM_000536.4(RAG2):c.675C>G (p.Ala225=) rs368808756
NM_000536.4(RAG2):c.681T>C (p.Asn227=) rs1590715665
NM_000536.4(RAG2):c.684C>T (p.Ile228=) rs145031483
NM_000536.4(RAG2):c.696C>T (p.Asn232=) rs2133313876
NM_000536.4(RAG2):c.714T>C (p.Val238=)
NM_000536.4(RAG2):c.723C>A (p.Pro241=) rs1436212234
NM_000536.4(RAG2):c.723C>G (p.Pro241=) rs1436212234
NM_000536.4(RAG2):c.724C>T (p.Leu242=) rs1326387652
NM_000536.4(RAG2):c.726G>A (p.Leu242=)
NM_000536.4(RAG2):c.72T>C (p.Phe24=)
NM_000536.4(RAG2):c.747C>T (p.Cys249=)
NM_000536.4(RAG2):c.753C>T (p.Val251=)
NM_000536.4(RAG2):c.759A>C (p.Pro253=)
NM_000536.4(RAG2):c.759A>G (p.Pro253=)
NM_000536.4(RAG2):c.75T>C (p.Asp25=) rs2133316403
NM_000536.4(RAG2):c.771T>C (p.Ser257=)
NM_000536.4(RAG2):c.780T>C (p.Ser260=) rs750603413
NM_000536.4(RAG2):c.786C>A (p.Ile262=)
NM_000536.4(RAG2):c.786C>T (p.Ile262=) rs2133313518
NM_000536.4(RAG2):c.787C>T (p.Leu263=) rs2133313501
NM_000536.4(RAG2):c.789G>A (p.Leu263=) rs1213333392
NM_000536.4(RAG2):c.822T>C (p.Val274=)
NM_000536.4(RAG2):c.84T>A (p.Val28=)
NM_000536.4(RAG2):c.84T>C (p.Val28=)
NM_000536.4(RAG2):c.852A>G (p.Arg284=)
NM_000536.4(RAG2):c.861C>T (p.Cys287=)
NM_000536.4(RAG2):c.864C>T (p.Asn288=)
NM_000536.4(RAG2):c.870C>T (p.Ile290=)
NM_000536.4(RAG2):c.873T>C (p.Ser291=) rs2133313201
NM_000536.4(RAG2):c.882C>T (p.Asp294=) rs1320386370
NM_000536.4(RAG2):c.909G>A (p.Glu303=) rs141025671
NM_000536.4(RAG2):c.915A>G (p.Pro305=) rs751463938
NM_000536.4(RAG2):c.924C>G (p.Thr308=)
NM_000536.4(RAG2):c.930C>T (p.Asp310=) rs2133312954
NM_000536.4(RAG2):c.936G>A (p.Lys312=)
NM_000536.4(RAG2):c.948A>C (p.Ile316=)
NM_000536.4(RAG2):c.987T>A (p.Leu329=)
NM_000536.4(RAG2):c.9G>C (p.Leu3=)

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