ClinVar Miner

List of variants in gene RAG1 reported as likely pathogenic for immune system disorder

Included ClinVar conditions (908):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 76
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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.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter) rs193922464 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.2258A>T (p.His753Leu) rs199474687 0.00003
NM_000448.3(RAG1):c.2348C>G (p.Ser783Ter) rs754502950 0.00003
NM_000448.3(RAG1):c.1981_1983del (p.Met661del) rs774103837 0.00002
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 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.1229G>A (p.Arg410Gln) rs199474684 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter) rs773929270 0.00001
NM_000448.3(RAG1):c.1003T>C (p.Cys335Arg) rs2133294899
NM_000448.3(RAG1):c.1073G>A (p.Cys358Tyr)
NM_000448.3(RAG1):c.1137del (p.His379fs)
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1219C>G (p.Gln407Glu) rs986694616
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)
NM_000448.3(RAG1):c.1232T>C (p.Leu411Pro) rs1554944877
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
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)
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1519C>T (p.Arg507Trp) rs104894298
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1583dup (p.Asn528fs)
NM_000448.3(RAG1):c.160G>T (p.Glu54Ter)
NM_000448.3(RAG1):c.1690_1691del (p.Ala565fs)
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)
NM_000448.3(RAG1):c.1856C>T (p.Pro619Leu)
NM_000448.3(RAG1):c.2006A>G (p.Glu669Gly) rs199474689
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2096G>A (p.Arg699Gln)
NM_000448.3(RAG1):c.2125G>A (p.Gly709Ser)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.2147G>A (p.Arg716Gln) rs1064793248
NM_000448.3(RAG1):c.2182T>C (p.Tyr728His) rs1564989655
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2258A>G (p.His753Arg)
NM_000448.3(RAG1):c.2275C>T (p.Arg759Cys) rs749027430
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
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)
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.256A>T (p.Lys86Ter)
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.2780T>C (p.Phe927Ser)
NM_000448.3(RAG1):c.2803del (p.Ile935fs)
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.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2918G>C (p.Arg973Pro) rs1384545687
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.371del (p.Asn124fs)
NM_000448.3(RAG1):c.418_419del (p.Leu140fs)
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.540G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
NM_000448.3(RAG1):c.820dup (p.Leu274fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568

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