ClinVar Miner

List of variants in gene RAG2 studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.*328A>G rs10836573 0.48132
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093 0.03307
NM_000536.4(RAG2):c.*183C>A rs12280564 0.03300
NM_000536.4(RAG2):c.*144G>T rs12280515 0.03006
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949 0.01926
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_000536.4(RAG2):c.*227T>C rs113343318 0.00331
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_000536.4(RAG2):c.*52T>A rs546979744 0.00076
NM_000536.4(RAG2):c.1198G>C (p.Asp400His) rs140682926 0.00058
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
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.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_000536.4(RAG2):c.*348C>G rs901433887 0.00002
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 0.00002
NM_000536.4(RAG2):c.140A>T (p.His47Leu) rs776913146 0.00002
NM_000536.4(RAG2):c.141T>G (p.His47Gln) rs768914369 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000536.4(RAG2):c.803A>G (p.Asn268Ser) rs368935791 0.00002
NM_000536.4(RAG2):c.*582T>C rs568192751 0.00001
NM_000536.4(RAG2):c.1074G>A (p.Glu358=) rs557047531 0.00001
NM_000536.4(RAG2):c.1209T>C (p.Asn403=) rs1351286949 0.00001
NM_000536.4(RAG2):c.1338C>G (p.Cys446Trp) rs1564995660 0.00001
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272 0.00001
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.*136A>C rs763674526
NM_000536.4(RAG2):c.*33G>T rs886048270
NM_000536.4(RAG2):c.*522C>G rs886048267
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.110C>T (p.Pro37Leu) rs1851104914
NM_000536.4(RAG2):c.1185TGA[2] (p.Asp397del) rs567942993
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.302del (p.Asn101fs) rs2133315462
NM_000536.4(RAG2):c.410G>A (p.Arg137Lys)
NM_000536.4(RAG2):c.487C>T (p.Pro163Ser)
NM_000536.4(RAG2):c.682A>T (p.Ile228Phe) rs763291155
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.749C>G (p.Thr250Arg)
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.836T>C (p.Leu279Pro) rs1851074227
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271

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