ClinVar Miner

List of variants in gene RAG2 reported as uncertain significance for Histiocytic medullary reticulosis

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Total variants: 78
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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.1198G>C (p.Asp400His) rs140682926 0.00058
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
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.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.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.*348C>G rs901433887 0.00002
NM_000536.4(RAG2):c.1187A>G (p.Asp396Gly) rs753730066 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.141T>G (p.His47Gln) rs768914369 0.00002
NM_000536.4(RAG2):c.1492A>T (p.Lys498Ter) rs373151027 0.00002
NM_000536.4(RAG2):c.174G>A (p.Lys58=) rs202020106 0.00002
NM_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_000536.4(RAG2):c.242A>G (p.Lys81Arg) rs777051349 0.00002
NM_000536.4(RAG2):c.326T>A (p.Val109Asp) rs201258007 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.*582T>C rs568192751 0.00001
NM_000536.4(RAG2):c.1041G>A (p.Met347Ile) rs766318035 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.1253C>T (p.Thr418Ile) rs781487639 0.00001
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 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.443G>A (p.Arg148Gln) rs779879427 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.677A>G (p.Asn226Ser) rs886048272 0.00001
NM_000536.4(RAG2):c.711G>T (p.Arg237Ser) rs1254138271 0.00001
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.*72T>C rs886048269
NM_000536.4(RAG2):c.*90T>G rs886048268
NM_000536.4(RAG2):c.1025G>A (p.Gly342Glu) rs367615315
NM_000536.4(RAG2):c.1037A>G (p.Tyr346Cys) rs752759155
NM_000536.4(RAG2):c.1109A>G (p.Glu370Gly) rs1851060950
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.1414G>A (p.Gly472Arg) rs1413100202
NM_000536.4(RAG2):c.1564C>T (p.Leu522Phe) rs1169944983
NM_000536.4(RAG2):c.19A>G (p.Thr7Ala) rs1851108814
NM_000536.4(RAG2):c.328A>G (p.Met110Val) rs193922575
NM_000536.4(RAG2):c.335T>C (p.Ile112Thr) rs1851094752
NM_000536.4(RAG2):c.419A>G (p.His140Arg) rs1335036396
NM_000536.4(RAG2):c.459T>A (p.Gly153=) rs1406563782
NM_000536.4(RAG2):c.501A>C (p.Arg167Ser) rs1159686210
NM_000536.4(RAG2):c.541T>C (p.Cys181Arg) rs1564996998
NM_000536.4(RAG2):c.682A>T (p.Ile228Phe) rs763291155
NM_000536.4(RAG2):c.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.77G>C (p.Gly26Ala) rs1851105838
NM_000536.4(RAG2):c.802A>C (p.Asn268His) rs1851075681
NM_000536.4(RAG2):c.814G>A (p.Val272Ile) rs117899975
NM_000536.4(RAG2):c.844C>A (p.Gln282Lys) rs1851073997
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271
NM_000536.4(RAG2):c.911C>T (p.Thr304Ile) rs1851070974
NM_000536.4(RAG2):c.917A>G (p.Asp306Gly) rs1851070511
NM_000536.4(RAG2):c.977C>T (p.Thr326Ile) rs781129987
NM_000536.4(RAG2):c.986T>G (p.Leu329Arg) rs1851065829

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