ClinVar Miner

List of variants in gene RAG1 reported as likely pathogenic

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Total variants: 110
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
NM_000448.3(RAG1):c.1228C>T (p.Arg410Trp) rs758288006 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 0.00003
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe) rs770771227 0.00003
NM_000448.3(RAG1):c.2210G>A (p.Arg737His) rs104894286 0.00003
NM_000448.3(RAG1):c.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 0.00003
NM_000448.3(RAG1):c.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter) rs769349662 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln) rs369990217 0.00002
NM_000448.3(RAG1):c.2143del (p.Val715fs) rs773194976 0.00002
NM_000448.3(RAG1):c.2488A>T (p.Lys830Ter) rs755551812 0.00002
NM_000448.3(RAG1):c.334C>T (p.Arg112Cys) rs146457887 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.1088G>A (p.Cys363Tyr) rs1461508819 0.00001
NM_000448.3(RAG1):c.1178G>T (p.Gly393Val) rs1554944856 0.00001
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874 0.00001
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter) rs986694616 0.00001
NM_000448.3(RAG1):c.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679 0.00001
NM_000448.3(RAG1):c.1520G>A (p.Arg507Gln) rs143969029 0.00001
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter) rs1378936510 0.00001
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu) rs755059628 0.00001
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser) rs1850828988 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248 0.00001
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys) rs760816389 0.00001
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430 0.00001
NM_000448.3(RAG1):c.2291G>A (p.Arg764His) rs768809293 0.00001
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln) rs1254739284 0.00001
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp) rs200300629 0.00001
NM_000448.3(RAG1):c.2442G>T (p.Glu814Asp) rs768860215 0.00001
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln) rs748296558 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2918G>A (p.Arg973His) rs1384545687 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 0.00001
NM_000448.3(RAG1):c.418_419del (p.Leu140fs) rs2494751635 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg) rs2133294899
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr) rs757001983
NM_000448.3(RAG1):c.1089del (p.Glu362_Cys363insTer)
NM_000448.3(RAG1):c.1137del (p.His379fs) rs756384834
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1182del (p.Arg396fs)
NM_000448.3(RAG1):c.1208C>T (p.Thr403Ile) rs2494754990
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu) rs986694616
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1348C>T (p.Gln450Ter) rs1850809690
NM_000448.3(RAG1):c.1361T>A (p.Leu454Gln) rs199474677
NM_000448.3(RAG1):c.1366del (p.Ala456fs) rs1417654713
NM_000448.3(RAG1):c.140del (p.Lys47fs) rs2133292794
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1583dup (p.Asn528fs) rs2494756760
NM_000448.3(RAG1):c.160G>T (p.Glu54Ter) rs2494750272
NM_000448.3(RAG1):c.1690_1691del (p.Ala565fs) rs2494757178
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter) rs2494750358
NM_000448.3(RAG1):c.1896_1902del (p.Ile632fs)
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.2018_2025del (p.Ala673fs)
NM_000448.3(RAG1):c.2025_2031dup (p.Leu678fs)
NM_000448.3(RAG1):c.2036_2046delinsGCAATGCATAGAGCCATA (p.Ile679_Arg682delinsSerAsnAlaTer)
NM_000448.3(RAG1):c.206del (p.Ala69fs) rs2494750488
NM_000448.3(RAG1):c.2182T>C (p.Tyr728His) rs1564989655
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2240A>C (p.His747Pro) rs1590703740
NM_000448.3(RAG1):c.2258A>G (p.His753Arg) rs199474687
NM_000448.3(RAG1):c.2263G>T (p.Glu755Ter)
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2393A>G (p.His798Arg) rs2133297434
NM_000448.3(RAG1):c.2411C>T (p.Ala804Val) rs2133297485
NM_000448.3(RAG1):c.2449del (p.Glu817fs) rs2494760363
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter) rs2494760674
NM_000448.3(RAG1):c.2564A>G (p.Asn855Ser) rs199474690
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter) rs2494750713
NM_000448.3(RAG1):c.2690G>A (p.Arg897Gln) rs1064793249
NM_000448.3(RAG1):c.2749C>T (p.Gln917Ter) rs1850845029
NM_000448.3(RAG1):c.2772_2773insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCT (p.Thr925delinsPhePhePhePhePhePhePhePhePhePhePhePhePhePheLeuArgArgSerLeuAlaLeuSerProArgProAspCysGlyLeuGlnTrpArgAsnLeuGlySerLeuGlnAlaProLeuProGlyPheThrProPheSerCysLeuSerLeuProSerSerTrpAspTyrArgArgProProProArgProAlaAsnPheLeuTyrPheTer)
NM_000448.3(RAG1):c.2780T>C (p.Phe927Ser) rs1249862287
NM_000448.3(RAG1):c.2803del (p.Ile935fs) rs2494762182
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) rs104894283
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.2917C>A (p.Arg973Ser) rs1389614116
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.2954A>G (p.Tyr985Cys)
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.319del (p.Leu107fs)
NM_000448.3(RAG1):c.371del (p.Asn124fs) rs2494751448
NM_000448.3(RAG1):c.392_395del (p.Gly131fs)
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter) rs2494752082
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter) rs2494752085
NM_000448.3(RAG1):c.555del (p.Lys186fs) rs786205615
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs) rs2494752351
NM_000448.3(RAG1):c.705dup (p.Leu236fs) rs764443382
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs) rs2494752916
NM_000448.3(RAG1):c.787dup (p.Met263fs)
NM_000448.3(RAG1):c.820dup (p.Leu274fs) rs2494753295
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568

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