ClinVar Miner

List of variants studied for combined immunodeficiency due to partial RAG1 deficiency

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_000448.3(RAG1):c.1064T>C (p.Met355Thr) rs151077440 0.00021
NM_000448.3(RAG1):c.1864G>A (p.Ala622Thr) rs148380512 0.00019
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2753G>A (p.Arg918His) rs368073575 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00009
NM_000448.3(RAG1):c.101G>A (p.Arg34Gln) rs377307948 0.00006
NM_000448.3(RAG1):c.1048G>A (p.Val350Ile) rs200758244 0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
NM_000448.3(RAG1):c.1207A>T (p.Thr403Ser) rs202189218 0.00004
NM_000448.3(RAG1):c.2924G>A (p.Arg975Gln) rs150739647 0.00004
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.335G>A (p.Arg112His) rs749223640 0.00003
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.1420C>T (p.Arg474Cys) rs199474678 0.00002
NM_000448.3(RAG1):c.1682G>A (p.Arg561His) rs104894284 0.00002
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.2210G>A (p.Arg737His) rs104894286 0.00002
NM_000448.3(RAG1):c.527G>T (p.Cys176Phe) rs149229197 0.00002
NM_000448.3(RAG1):c.1187G>A (p.Arg396His) rs104894291 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000448.3(RAG1):c.1331C>T (p.Ala444Val) rs199474685 0.00001
NM_000448.3(RAG1):c.1421G>A (p.Arg474His) rs199474686 0.00001
NM_000448.3(RAG1):c.1480A>G (p.Ile494Val) rs777216600 0.00001
NM_000448.3(RAG1):c.1681C>T (p.Arg561Cys) rs104894285 0.00001
NM_000448.3(RAG1):c.1870C>T (p.Arg624Cys) rs199474688 0.00001
NM_000448.3(RAG1):c.1871G>A (p.Arg624His) rs199474680 0.00001
NM_000448.3(RAG1):c.206C>G (p.Ala69Gly) rs887750833 0.00001
NM_000448.3(RAG1):c.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2689C>T (p.Arg897Ter) rs757797994 0.00001
NM_000448.3(RAG1):c.2867T>C (p.Ile956Thr) rs182385524 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.549G>A (p.Met183Ile) rs750394886 0.00001
NM_000448.3(RAG1):c.983G>A (p.Cys328Tyr) rs121918571 0.00001
NM_000448.3(RAG1):c.997T>C (p.Tyr333His) rs1041695603 0.00001
NM_000448.2(RAG1):c.[1213A>G;1871G>A]
NM_000448.3(RAG1):c.1137del (p.His379fs)
NM_000448.3(RAG1):c.1180C>T (p.Arg394Trp) rs1590702874
NM_000448.3(RAG1):c.1181G>A (p.Arg394Gln) rs1850805503
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1219C>T (p.Gln407Ter)
NM_000448.3(RAG1):c.1264G>T (p.Ala422Ser) rs568838996
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.181C>T (p.Gln61Ter)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
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.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.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.2497C>T (p.Gln833Ter)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
NM_000448.3(RAG1):c.2623del (p.Ser875fs)
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.2803del (p.Ile935fs)
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) rs104894288
NM_000448.3(RAG1):c.2945C>A (p.Ser982Tyr) rs1245287257
NM_000448.3(RAG1):c.2988G>T (p.Leu996Phe) rs1388654836
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.432G>T (p.Lys144Asn) rs144430517
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
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.691C>T (p.Gln231Ter)
NM_000448.3(RAG1):c.736_737delinsA (p.Ala246fs)
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000448.3(RAG1):c.820dup (p.Leu274fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325

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