ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive by Illumina Laboratory Services, Illumina

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ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.*1101G>A rs145963034 0.00261
NM_000448.3(RAG1):c.-114G>A rs872052 0.00259
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_000536.4(RAG2):c.1504A>G (p.Met502Val) rs145614809 0.00149
NM_000448.3(RAG1):c.3016A>G (p.Met1006Val) rs139113046 0.00148
NM_000448.3(RAG1):c.*238G>A rs4151035 0.00105
NM_000448.3(RAG1):c.*420T>C rs4151037 0.00105
NM_000448.3(RAG1):c.*370G>T rs569692485 0.00096
NM_000448.3(RAG1):c.*739C>T rs4151039 0.00095
NM_000448.3(RAG1):c.*1130A>G rs554469239 0.00078
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_000448.3(RAG1):c.*1124C>T rs756654880 0.00031
NM_000536.4(RAG2):c.368G>A (p.Arg123His) rs144012817 0.00029
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000448.3(RAG1):c.1674G>C (p.Lys558Asn) rs150790148 0.00019
NM_000448.3(RAG1):c.653G>A (p.Arg218His) rs202178215 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_000448.3(RAG1):c.597C>T (p.Asn199=) rs148288583 0.00013
NM_000448.3(RAG1):c.1367C>A (p.Ala456Asp) rs201779957 0.00012
NM_000448.3(RAG1):c.2626G>A (p.Glu876Lys) rs145772007 0.00012
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_000448.3(RAG1):c.*3058A>G rs746468007 0.00010
NM_000536.4(RAG2):c.1092C>G (p.Asn364Lys) rs150349031 0.00009
NM_000448.3(RAG1):c.2428A>G (p.Ile810Val) rs61752933 0.00008
NM_000448.3(RAG1):c.*2308G>A rs766934756 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_000448.3(RAG1):c.1060C>A (p.Leu354Met) rs753165042 0.00006
NM_000448.3(RAG1):c.2426A>G (p.Lys809Arg) rs773703055 0.00006
NM_000448.3(RAG1):c.*1705A>G rs886048264 0.00005
NM_000448.3(RAG1):c.2487G>T (p.Arg829Ser) rs752304188 0.00005
NM_000448.3(RAG1):c.*1732C>T rs938546665 0.00004
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000448.3(RAG1):c.486T>A (p.Asp162Glu) rs753042511 0.00004
NM_000448.3(RAG1):c.799G>A (p.Ala267Thr) rs148393376 0.00004
NM_000448.3(RAG1):c.152A>T (p.Asp51Val) rs147486240 0.00003
NM_000448.3(RAG1):c.2799A>G (p.Gly933=) rs769375583 0.00003
NM_000448.3(RAG1):c.37T>G (p.Ser13Ala) rs760746448 0.00003
NM_000448.3(RAG1):c.425G>A (p.Arg142Gln) rs372110434 0.00003
NM_000448.3(RAG1):c.592A>C (p.Arg198=) rs746425890 0.00003
NM_000536.4(RAG2):c.-151A>C rs886048273 0.00003
NM_000448.3(RAG1):c.*273G>C rs144069419 0.00002
NM_000448.3(RAG1):c.*627A>G rs1322490118 0.00002
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_000448.3(RAG1):c.*1146C>T rs1051248827 0.00001
NM_000448.3(RAG1):c.*1287T>C rs1035645614 0.00001
NM_000448.3(RAG1):c.*1293G>C rs1214769858 0.00001
NM_000448.3(RAG1):c.*1478C>T rs898762722 0.00001
NM_000448.3(RAG1):c.*1767A>C rs1183147057 0.00001
NM_000448.3(RAG1):c.*200C>T rs886048256 0.00001
NM_000448.3(RAG1):c.*2012T>C rs1475530896 0.00001
NM_000448.3(RAG1):c.*2289T>G rs200013770 0.00001
NM_000448.3(RAG1):c.*2828G>A rs1003540768 0.00001
NM_000448.3(RAG1):c.*344G>A rs886048257 0.00001
NM_000448.3(RAG1):c.*47T>C rs955448714 0.00001
NM_000448.3(RAG1):c.*709A>G rs1203179556 0.00001
NM_000448.3(RAG1):c.2110A>G (p.Ile704Val) rs886048254 0.00001
NM_000448.3(RAG1):c.296G>A (p.Gly99Asp) rs533714087 0.00001
NM_000448.3(RAG1):c.831G>A (p.Lys277=) rs1376996089 0.00001
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.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.677A>G (p.Asn226Ser) rs886048272 0.00001
NM_000448.3(RAG1):c.*1074G>A rs529708456
NM_000448.3(RAG1):c.*1111G>C rs1850870990
NM_000448.3(RAG1):c.*1277G>A rs1850873586
NM_000448.3(RAG1):c.*1515T>C rs1850877439
NM_000448.3(RAG1):c.*1539G>A rs987368823
NM_000448.3(RAG1):c.*1562A>G rs185464049
NM_000448.3(RAG1):c.*1611G>A rs886048262
NM_000448.3(RAG1):c.*1701T>C rs886048263
NM_000448.3(RAG1):c.*2211C>T rs538916870
NM_000448.3(RAG1):c.*2442G>A rs886048265
NM_000448.3(RAG1):c.*3191T>C rs1159054368
NM_000448.3(RAG1):c.*362T>C rs946957748
NM_000448.3(RAG1):c.*363T>C rs1850859738
NM_000448.3(RAG1):c.*766A>G rs886048259
NM_000448.3(RAG1):c.-10C>T rs886048251
NM_000448.3(RAG1):c.1077A>G (p.Pro359=) rs886048253
NM_000448.3(RAG1):c.1770G>T (p.Leu590=) rs1850820804
NM_000448.3(RAG1):c.1786G>A (p.Val596Met) rs1850820995
NM_000448.3(RAG1):c.187C>G (p.Pro63Ala) rs1850780083
NM_000448.3(RAG1):c.276C>T (p.His92=) rs550985019
NM_000448.3(RAG1):c.2825C>T (p.Thr942Ile) rs762625040
NM_000448.3(RAG1):c.2968G>A (p.Val990Ile) rs886048255
NM_000448.3(RAG1):c.335G>T (p.Arg112Leu) rs749223640
NM_000448.3(RAG1):c.354T>A (p.Phe118Leu) rs1850784411
NM_000448.3(RAG1):c.382C>T (p.Pro128Ser) rs886048252
NM_000448.3(RAG1):c.739C>T (p.Arg247Cys) rs147203889
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.-146G>T rs1851360292
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.74A>G (p.Asp25Gly) rs1851105950
NM_000536.4(RAG2):c.862A>G (p.Asn288Asp) rs886048271

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