ClinVar Miner

List of variants reported as pathogenic for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 536
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328 0.00009
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys) rs193922461 0.00009
NM_000448.3(RAG1):c.2974A>G (p.Lys992Glu) rs539590514 0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000448.3(RAG1):c.1A>G (p.Met1Val) rs200575481 0.00007
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter) rs104894419 0.00007
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000448.3(RAG1):c.2521C>T (p.Arg841Trp) rs104894287 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000448.3(RAG1):c.256_257del (p.Lys86fs) rs772962160 0.00005
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_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_000536.4(RAG2):c.475C>T (p.Arg159Cys) rs764485070 0.00004
NM_206937.2(LIG4):c.2690C>G (p.Ser897Ter) rs750080610 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
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_000536.4(RAG2):c.217C>T (p.Arg73Cys) rs193922574 0.00003
NM_000536.4(RAG2):c.283G>A (p.Gly95Arg) rs36001797 0.00003
NM_001033855.3(DCLRE1C):c.109+1G>T rs143144732 0.00003
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156 0.00003
NM_001625.4(AK2):c.498+1G>A rs777503956 0.00003
NM_001625.4(AK2):c.556C>T (p.Arg186Cys) rs267606645 0.00003
NM_000022.4(ADA):c.350G>A (p.Trp117Ter) rs749484894 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338 0.00002
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327 0.00002
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.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 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_000536.4(RAG2):c.218G>A (p.Arg73His) rs762407838 0.00002
NM_206937.2(LIG4):c.73C>T (p.Arg25Ter) rs753883369 0.00002
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.678+5G>C rs763478578 0.00001
NM_000022.4(ADA):c.845+1G>C rs766590645 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
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.1229G>A (p.Arg410Gln) rs199474684 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.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.2146C>T (p.Arg716Trp) rs199776076 0.00001
NM_000448.3(RAG1):c.2326C>T (p.Arg776Trp) rs121918572 0.00001
NM_000448.3(RAG1):c.2333G>A (p.Arg778Gln) rs121918569 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.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000448.3(RAG1):c.2981A>G (p.His994Arg) rs775412266 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.999T>A (p.Tyr333Ter) rs902350422 0.00001
NM_000536.4(RAG2):c.1268G>A (p.Cys423Tyr) rs768567592 0.00001
NM_000536.4(RAG2):c.1433G>A (p.Cys478Tyr) rs121918573 0.00001
NM_000536.4(RAG2):c.442C>T (p.Arg148Ter) rs1315729938 0.00001
NM_000536.4(RAG2):c.464T>C (p.Leu155Pro) rs1064793250 0.00001
NM_000536.4(RAG2):c.53G>T (p.Gly18Val) rs1851106893 0.00001
NM_000536.4(RAG2):c.595G>T (p.Glu199Ter) rs748727021 0.00001
NM_000536.4(RAG2):c.685C>T (p.Arg229Trp) rs765298019 0.00001
NM_000536.4(RAG2):c.859del (p.Cys287fs) rs754975137 0.00001
NM_001033855.3(DCLRE1C):c.2T>C (p.Met1Thr) rs121908158 0.00001
NM_001033855.3(DCLRE1C):c.464+1G>A rs1162344514 0.00001
NM_001033855.3(DCLRE1C):c.47T>C (p.Ile16Thr) rs1317003987 0.00001
NM_001625.4(AK2):c.1A>G (p.Met1Val) rs137853206 0.00001
NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter) rs104894418 0.00001
NM_206937.2(LIG4):c.833G>A (p.Arg278His) rs104894421 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
GRCh37/hg19 10p13(chr10:14983910-15065646)
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
NC_000001.10:g.(?_33473829)_(33478866_?)del
NC_000001.10:g.(?_33490023)_(33502429_?)del
NC_000010.10:g.(?_14946600)_(14951339_?)del
NC_000010.10:g.(?_14953179)_(14961841_?)del
NC_000010.10:g.(?_14976692)_(14996009_?)del
NC_000010.10:g.(?_14977442)_(14996029_?)del
NC_000010.10:g.(?_14977452)_(14978602_?)del
NC_000010.10:g.(?_14977452)_(14996009_?)del
NC_000010.10:g.(?_14978527)_(14978602_?)del
NC_000010.10:g.(?_14981789)_(14996029_?)del
NC_000010.10:g.(?_14981799)_(14996009_?)del
NC_000010.10:g.(?_14989514)_(14996441_?)del
NC_000010.10:g.(?_14991015)_(14991106_?)del
NC_000010.10:g.(?_14995891)_(14996441_?)del
NC_000010.10:g.14983601_15065700del
NC_000010.11:g.(?_14935443)_(14936613_?)del
NC_000010.11:g.(?_14939800)_(14945199_?)del
NC_000010.11:g.(?_14945085)_(14945209_?)del
NC_000010.11:g.(?_14945085)_(14954030_?)del
NC_000010.11:g.(?_14945095)_(14945199_?)del
NC_000010.11:g.(?_14945095)_(14954442_?)del
NC_000010.11:g.14935443_14954030del
NC_000011.10:g.(?_36573285)_(36598102_?)del
NC_000011.9:g.(?_36614125)_(36615728_?)del
NC_000013.10:g.(?_108860881)_(108863616_?)del
NC_000013.11:g.(?_108208513)_(108211288_?)del
NC_000020.10:g.(?_43248475)_(43280248_?)del
NC_000020.10:g.(?_43251625)_(43255215_?)del
NC_000020.10:g.(?_43252823)_(43255260_?)del
NC_000020.10:g.(?_43264848)_(43264949_?)del
NC_000020.11:g.(?_44636217)_(44636298_?)del
NC_000020.11:g.(?_44651555)_(44651627_?)del
NC_000020.11:g.44649961_44653216del
NG_007276.1:g.(19287_22502)_(23634_24320)del
NG_007276.1:g.(?_5047)_(19287_22502)del
NG_016269.1:g.(5157_17324)_(17451_20188)del
NM_000022.2(ADA):c.[290A>G;316C>G]
NM_000022.4(ADA):c.1009G>T (p.Glu337Ter)
NM_000022.4(ADA):c.1018_1019del (p.Lys340fs)
NM_000022.4(ADA):c.1019del (p.Lys340fs)
NM_000022.4(ADA):c.1021_1022del (p.Arg341fs) rs2065317387
NM_000022.4(ADA):c.1024G>T (p.Glu342Ter) rs2123507871
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.4(ADA):c.306C>G (p.Tyr102Ter) rs149520391
NM_000022.4(ADA):c.307del (p.Ser103fs)
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.33+1G>A rs587776534
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.33+2_33+104del rs2145366792
NM_000022.4(ADA):c.337G>T (p.Glu113Ter) rs1275500780
NM_000022.4(ADA):c.34-11_55del rs1230022655
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.383_404dup (p.Leu137fs) rs1555844616
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.394del (p.Ala131_Leu132insTer)
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.412C>T (p.Gln138Ter)
NM_000022.4(ADA):c.421G>T (p.Glu141Ter) rs1199690825
NM_000022.4(ADA):c.447del (p.Ser150fs)
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.482G>A (p.Trp161Ter)
NM_000022.4(ADA):c.49del (p.His17fs)
NM_000022.4(ADA):c.507dup (p.Lys170Ter)
NM_000022.4(ADA):c.516C>A (p.Tyr172Ter) rs748810619
NM_000022.4(ADA):c.517del (p.Gln173fs)
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.532dup (p.Val178fs) rs886041796
NM_000022.4(ADA):c.577dup (p.Leu193fs) rs759445496
NM_000022.4(ADA):c.603C>A (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.603C>G (p.Tyr201Ter) rs1555844395
NM_000022.4(ADA):c.645_648dup (p.Glu217fs) rs2065348171
NM_000022.4(ADA):c.690dup (p.Leu231fs) rs2065346614
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.705del (p.Leu236fs) rs1225623204
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.760C>T (p.Gln254Ter) rs2065345592
NM_000022.4(ADA):c.781-3_781delinsTGGAAGAGCAGATCTGG rs2123516908
NM_000022.4(ADA):c.785_786insGTCTG (p.Cys262fs) rs757796081
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.845+2T>C rs2123516572
NM_000022.4(ADA):c.854dup (p.Asn285fs) rs2123511347
NM_000022.4(ADA):c.859_877dup (p.Asn293delinsThrGlyTer)
NM_000022.4(ADA):c.870C>A (p.Tyr290Ter) rs2065327638
NM_000022.4(ADA):c.879_898del (p.Thr294fs) rs2065327187
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.970del (p.Arg324fs) rs2065325961
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000022.4(ADA):c.975+2T>C
NM_000022.4(ADA):c.975+2T>G
NM_000022.4(ADA):c.976-1G>C
NM_000022.4(ADA):c.976-2A>G
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000022.4(ADA):c.[455T>C;478+6T>C]
NM_000448.2(RAG1):c.[1213A>G;1871G>A]
NM_000448.2(RAG1):c.[1229G>A;1863delG]
NM_000448.2(RAG1):c.[1519C>T;2210G>A]
NM_000448.2(RAG1):c.[1681C>T;1815G>C]
NM_000448.2(RAG1):c.[1871G>A;2182T>C]
NM_000448.2(RAG1):c.[2119G>C;519delT]
NM_000448.3(RAG1):c.1010del (p.Pro337fs)
NM_000448.3(RAG1):c.1096G>T (p.Glu366Ter)
NM_000448.3(RAG1):c.1148_1149del (p.Lys383fs)
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.1286A>G (p.Asp429Gly) rs104894292
NM_000448.3(RAG1):c.1297del (p.Val433fs)
NM_000448.3(RAG1):c.1366del (p.Ala456fs)
NM_000448.3(RAG1):c.1460T>G (p.Met487Arg) rs1850812562
NM_000448.3(RAG1):c.1501C>T (p.Gln501Ter)
NM_000448.3(RAG1):c.1528G>T (p.Glu510Ter) rs759401797
NM_000448.3(RAG1):c.1565G>A (p.Trp522Ter)
NM_000448.3(RAG1):c.1612_1624del (p.Ile538fs) rs749256215
NM_000448.3(RAG1):c.1621del (p.Leu541fs) rs1590703275
NM_000448.3(RAG1):c.1653C>G (p.Tyr551Ter)
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.1723G>T (p.Glu575Ter)
NM_000448.3(RAG1):c.1758_1760delinsGAATC (p.Asp587fs)
NM_000448.3(RAG1):c.1767C>G (p.Tyr589Ter) rs991089005
NM_000448.3(RAG1):c.1798del (p.Glu600fs) rs2133296385
NM_000448.3(RAG1):c.1864del (p.Ala622fs) rs1564989455
NM_000448.3(RAG1):c.2005G>A (p.Glu669Lys) rs878853004
NM_000448.3(RAG1):c.2018_2691delinsGCG (p.Ala673fs)
NM_000448.3(RAG1):c.2033_2034del (p.Leu678fs)
NM_000448.3(RAG1):c.2065G>T (p.Glu689Ter)
NM_000448.3(RAG1):c.206del (p.Ala69fs)
NM_000448.3(RAG1):c.2143del (p.Val715fs)
NM_000448.3(RAG1):c.2196_2197del (p.Leu732_Cys733insTer)
NM_000448.3(RAG1):c.2199T>A (p.Cys733Ter) rs1850830824
NM_000448.3(RAG1):c.2209C>T (p.Arg737Cys)
NM_000448.3(RAG1):c.2228del (p.Asn743fs)
NM_000448.3(RAG1):c.2251del (p.Arg751fs)
NM_000448.3(RAG1):c.2320G>T (p.Glu774Ter) rs104894282
NM_000448.3(RAG1):c.2327G>A (p.Arg776Gln)
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp) rs752020152
NM_000448.3(RAG1):c.2410del (p.Ala804fs)
NM_000448.3(RAG1):c.2434C>T (p.Gln812Ter)
NM_000448.3(RAG1):c.2449G>T (p.Glu817Ter)
NM_000448.3(RAG1):c.2449del (p.Glu817fs)
NM_000448.3(RAG1):c.2475del (p.Glu827fs) rs2133297611
NM_000448.3(RAG1):c.2487_2488delinsTT (p.Arg829_Lys830delinsSerTer) rs1850837839
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.2557_2560dup (p.Gly854fs)
NM_000448.3(RAG1):c.2615T>A (p.Leu872Ter)
NM_000448.3(RAG1):c.2615T>G (p.Leu872Ter) rs749360497
NM_000448.3(RAG1):c.2623del (p.Ser875fs)
NM_000448.3(RAG1):c.2627del (p.Glu876fs)
NM_000448.3(RAG1):c.2735A>G (p.Tyr912Cys) rs104894290
NM_000448.3(RAG1):c.2736_2737del (p.Tyr912_Ser913delinsTer) rs1317208073
NM_000448.3(RAG1):c.2814T>G (p.Tyr938Ter) rs104894283
NM_000448.3(RAG1):c.2850del (p.Ile950fs) rs2133298263
NM_000448.3(RAG1):c.2877G>A (p.Trp959Ter) rs1850847819
NM_000448.3(RAG1):c.2882_2891del (p.Ser961fs) rs1195475275
NM_000448.3(RAG1):c.2903_2907del (p.Asn968fs)
NM_000448.3(RAG1):c.2918G>A (p.Arg973His)
NM_000448.3(RAG1):c.2942A>C (p.Gln981Pro) rs104894288
NM_000448.3(RAG1):c.305_312del (p.Ile102fs)
NM_000448.3(RAG1):c.3074dup (p.Leu1025fs) rs1564990390
NM_000448.3(RAG1):c.336dup (p.Ile113fs)
NM_000448.3(RAG1):c.354del (p.Phe118fs)
NM_000448.3(RAG1):c.360_367del (p.Asp121fs) rs1590701881
NM_000448.3(RAG1):c.404dup (p.Gly135_Lys136insTer)
NM_000448.3(RAG1):c.519del (p.Glu174fs) rs1241698978
NM_000448.3(RAG1):c.539G>A (p.Trp180Ter)
NM_000448.3(RAG1):c.54del (p.Gln19fs)
NM_000448.3(RAG1):c.555del (p.Lys186fs) rs786205615
NM_000448.3(RAG1):c.611_612insT (p.Trp204fs)
NM_000448.3(RAG1):c.612G>A (p.Trp204Ter)
NM_000448.3(RAG1):c.659del (p.Gly220fs)
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.937del (p.Cys313fs)
NM_000448.3(RAG1):c.940C>T (p.Arg314Trp) rs121918568
NM_000448.3(RAG1):c.987del (p.Ser330fs) rs1564988767
NM_000448.3(RAG1):c.994C>T (p.Arg332Ter) rs568867325
NM_000536.3(RAG2):c.[1403_1406delATCT;1A>G]
NM_000536.4(RAG2):c.1024G>T (p.Gly342Ter)
NM_000536.4(RAG2):c.102del (p.Gly35fs)
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.104G>T (p.Gly35Val) rs148508754
NM_000536.4(RAG2):c.1050_1060del (p.Cys350_Asp354delinsTer) rs1851062418
NM_000536.4(RAG2):c.1053dup (p.Glu352Ter) rs2133312509
NM_000536.4(RAG2):c.1104_1321del (p.Thr369fs)
NM_000536.4(RAG2):c.1131del (p.Phe378fs)
NM_000536.4(RAG2):c.1142_1143del (p.Asp380_Ser381insTer)
NM_000536.4(RAG2):c.115A>G (p.Arg39Gly) rs121917897
NM_000536.4(RAG2):c.1210G>T (p.Glu404Ter)
NM_000536.4(RAG2):c.123C>G (p.Cys41Trp) rs121917895
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.1257C>G (p.Cys419Trp)
NM_000536.4(RAG2):c.1275_1278dup (p.Ile427fs) rs1470797202
NM_000536.4(RAG2):c.130G>T (p.Gly44Ter) rs1440633758
NM_000536.4(RAG2):c.1329G>C (p.Met443Ile)
NM_000536.4(RAG2):c.1334dup (p.Tyr445Ter)
NM_000536.4(RAG2):c.1348del (p.Asp450fs)
NM_000536.4(RAG2):c.1357T>A (p.Trp453Arg) rs1564995627
NM_000536.4(RAG2):c.1403_1404dup (p.Leu469fs) rs2133311139
NM_000536.4(RAG2):c.1403_1406del (p.His468fs) rs786205616
NM_000536.4(RAG2):c.1441C>G (p.His481Asp)
NM_000536.4(RAG2):c.1442A>G (p.His481Arg)
NM_000536.4(RAG2):c.1491_1506A[6]GCCTCCAATGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTAGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAGCCTCCAATG[1] (p.Lys503delinsGlyArgAlaArgTrpLeuThrProValIleProAlaLeuArgGluAlaGluAlaGlyGlySerTer)
NM_000536.4(RAG2):c.171del (p.Lys58fs)
NM_000536.4(RAG2):c.189dup (p.Lys64Ter)
NM_000536.4(RAG2):c.1A>G (p.Met1Val) rs1564997814
NM_000536.4(RAG2):c.230C>A (p.Thr77Asn) rs121918574
NM_000536.4(RAG2):c.243del (p.Gly82fs) rs1851098227
NM_000536.4(RAG2):c.272_278del (p.Tyr91fs)
NM_000536.4(RAG2):c.293del (p.Thr98fs) rs1851096223
NM_000536.4(RAG2):c.358del (p.Val120fs) rs1342428152
NM_000536.4(RAG2):c.361_364del (p.Thr121fs)
NM_000536.4(RAG2):c.385_389del (p.Leu129fs) rs1164927451
NM_000536.4(RAG2):c.3G>A (p.Met1Ile)
NM_000536.4(RAG2):c.479C>A (p.Ser160Ter)
NM_000536.4(RAG2):c.47_57del (p.Gln16fs) rs2133316487
NM_000536.4(RAG2):c.535del (p.Leu179fs) rs2133314424
NM_000536.4(RAG2):c.548dup (p.Leu184fs)
NM_000536.4(RAG2):c.638dup (p.Asn213fs) rs1851080959
NM_000536.4(RAG2):c.686G>A (p.Arg229Gln) rs121917894
NM_000536.4(RAG2):c.686G>C (p.Arg229Pro) rs121917894
NM_000536.4(RAG2):c.724del (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.724dup (p.Leu242fs) rs2133313784
NM_000536.4(RAG2):c.743del (p.Asn248fs) rs2133313716
NM_000536.4(RAG2):c.770_771del (p.Ser257fs) rs2133313582
NM_000536.4(RAG2):c.817_819del (p.Ile273del) rs2133313409
NM_000536.4(RAG2):c.826G>A (p.Gly276Ser) rs1851074701
NM_000536.4(RAG2):c.829dup (p.Tyr277fs) rs1851074524
NM_000536.4(RAG2):c.854T>G (p.Met285Arg) rs121917896
NM_000536.4(RAG2):c.863del (p.Asn288fs) rs755941834
NM_000536.4(RAG2):c.895del (p.Ile299fs) rs2133313100
NM_000536.4(RAG2):c.951G>A (p.Trp317Ter)
NM_000536.4(RAG2):c.951G>T (p.Trp317Cys)
NM_000536.4(RAG2):c.955G>T (p.Gly319Ter) rs879541124
NM_000536.4(RAG2):c.95G>A (p.Gly32Glu)
NM_000536.4(RAG2):c.984del (p.Gly330fs)
NM_001033855.3(DCLRE1C):c.103C>G (p.His35Asp) rs121908159
NM_001033855.3(DCLRE1C):c.1103del (p.Lys368fs)
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
NM_001033855.3(DCLRE1C):c.1156+1G>C
NM_001033855.3(DCLRE1C):c.1156+2T>G
NM_001033855.3(DCLRE1C):c.1221C>G (p.Tyr407Ter) rs1296189593
NM_001033855.3(DCLRE1C):c.1246_1247insCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAG (p.Phe416fs)
NM_001033855.3(DCLRE1C):c.1248delinsAATCATATTTACCAAATGCCCCTCATTTACATAAATATTATACTAGCATTTACCATCTCACTTCTAGGAATACTAGTATATCGCTCACACCTCATATCCTCCCTACTATGCCTAGAAGGAATAATACTATCGCTGTTCATTATAGCTACTCTCATAACCCTCAACACCCACTCCCTCTTAGCCAATATGGCTAAGTA (p.Phe416delinsLeuIleIlePheThrLysCysProSerPheThrTer)
NM_001033855.3(DCLRE1C):c.1259_1266dup (p.Glu423fs) rs755447150
NM_001033855.3(DCLRE1C):c.1265C>A (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.1270A>T (p.Lys424Ter)
NM_001033855.3(DCLRE1C):c.1286_1287del (p.Leu429fs)
NM_001033855.3(DCLRE1C):c.1299_1306dup (p.Cys436Ter) rs2131778656
NM_001033855.3(DCLRE1C):c.1313_1317del (p.Ala438fs) rs2131778479
NM_001033855.3(DCLRE1C):c.1315G>T (p.Glu439Ter) rs753674918
NM_001033855.3(DCLRE1C):c.1316_1317del (p.Glu439fs) rs1200768694
NM_001033855.3(DCLRE1C):c.1350_1356del (p.Asp451fs) rs786200884
NM_001033855.3(DCLRE1C):c.140T>A (p.Leu47Ter)
NM_001033855.3(DCLRE1C):c.1438C>T (p.Gln480Ter)
NM_001033855.3(DCLRE1C):c.1442del (p.Lys481fs) rs2131776743
NM_001033855.3(DCLRE1C):c.1467G>A (p.Trp489Ter) rs2131776422
NM_001033855.3(DCLRE1C):c.1467_1468del (p.Trp489_Glu490delinsTer)
NM_001033855.3(DCLRE1C):c.1489_1490insCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTACTAANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAGAAATG (p.Asp497delinsAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluThrThrValLysProArgLeuTyrTer)
NM_001033855.3(DCLRE1C):c.1492G>T (p.Glu498Ter) rs372597855
NM_001033855.3(DCLRE1C):c.1502_1503dup (p.Glu502fs) rs2131776130
NM_001033855.3(DCLRE1C):c.1502_1508del (p.Asp501fs)
NM_001033855.3(DCLRE1C):c.1507_1508del (p.Ser503fs) rs2131775994
NM_001033855.3(DCLRE1C):c.1543G>T (p.Gly515Ter) rs1419439468
NM_001033855.3(DCLRE1C):c.1545dup (p.Ser516fs) rs2131775605
NM_001033855.3(DCLRE1C):c.1549C>T (p.Gln517Ter)
NM_001033855.3(DCLRE1C):c.1558_1559del (p.Lys520fs) rs2131775466
NM_001033855.3(DCLRE1C):c.1574_1575del (p.Asp524_Ser525insTer)
NM_001033855.3(DCLRE1C):c.1585_1588dup (p.Thr530fs) rs1834776385
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.1628_1632del (p.Ile543fs) rs767758218
NM_001033855.3(DCLRE1C):c.1636C>T (p.Gln546Ter)
NM_001033855.3(DCLRE1C):c.1665_1666del (p.Asp556fs) rs2131774270
NM_001033855.3(DCLRE1C):c.1669dup (p.Thr557fs) rs886037924
NM_001033855.3(DCLRE1C):c.178_179dup (p.Cys61fs)
NM_001033855.3(DCLRE1C):c.180C>A (p.Tyr60Ter) rs2131108640
NM_001033855.3(DCLRE1C):c.184_191del (p.Ser62fs)
NM_001033855.3(DCLRE1C):c.194C>T (p.Thr65Ile) rs886037925
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter) rs1589136659
NM_001033855.3(DCLRE1C):c.310_313del rs2130974126
NM_001033855.3(DCLRE1C):c.318dup (p.Val107fs)
NM_001033855.3(DCLRE1C):c.328del (p.Leu110fs)
NM_001033855.3(DCLRE1C):c.330_331del (p.Leu111fs)
NM_001033855.3(DCLRE1C):c.346T>C (p.Cys116Arg)
NM_001033855.3(DCLRE1C):c.352G>T (p.Gly118Ter) rs1839957089
NM_001033855.3(DCLRE1C):c.356C>G (p.Ser119Ter)
NM_001033855.3(DCLRE1C):c.362+1G>T rs1564446526
NM_001033855.3(DCLRE1C):c.362+2T>A
NM_001033855.3(DCLRE1C):c.449dup (p.His151fs) rs1589070600
NM_001033855.3(DCLRE1C):c.461del (p.Gly154fs) rs1404214090
NM_001033855.3(DCLRE1C):c.481dup (p.Ser161fs) rs1839622622
NM_001033855.3(DCLRE1C):c.484_487dup (p.Tyr163fs)
NM_001033855.3(DCLRE1C):c.511_512delinsTG (p.Pro171Ter) rs2130943393
NM_001033855.3(DCLRE1C):c.522C>G (p.Tyr174Ter) rs1340132582
NM_001033855.3(DCLRE1C):c.565del (p.Leu189fs)
NM_001033855.3(DCLRE1C):c.571C>T (p.Arg191Ter) rs752655158
NM_001033855.3(DCLRE1C):c.597C>A (p.Tyr199Ter) rs121908157
NM_001033855.3(DCLRE1C):c.628del (p.Tyr210fs) rs1839558393
NM_001033855.3(DCLRE1C):c.629del (p.Tyr210fs) rs2130938370
NM_001033855.3(DCLRE1C):c.655del (p.Ser220fs)
NM_001033855.3(DCLRE1C):c.668T>G (p.Leu223Ter)
NM_001033855.3(DCLRE1C):c.671del (p.Gly224fs) rs1407251815
NM_001033855.3(DCLRE1C):c.754C>T (p.Gln252Ter) rs1589050343
NM_001033855.3(DCLRE1C):c.780+1del rs786205074
NM_001033855.3(DCLRE1C):c.787G>T (p.Glu263Ter)
NM_001033855.3(DCLRE1C):c.801G>A (p.Trp267Ter) rs2130853055
NM_001033855.3(DCLRE1C):c.816T>A (p.Cys272Ter) rs1346260747
NM_001033855.3(DCLRE1C):c.822del (p.Thr275fs)
NM_001033855.3(DCLRE1C):c.917+1G>A rs1564418254
NM_001033855.3(DCLRE1C):c.972+1G>C rs1564414523
NM_001033855.3:c.(306+1_307-1)_(678+1_679-1)del (p.Lys103_Gln226del)
NM_001625.4(AK2):c.118del (p.Cys40fs) rs387906581
NM_001625.4(AK2):c.25G>T (p.Glu9Ter) rs267606647
NM_001625.4(AK2):c.307C>T (p.Arg103Trp) rs267606648
NM_001625.4(AK2):c.330+5G>A rs1569646997
NM_001625.4(AK2):c.331-1G>A rs1192619329
NM_001625.4(AK2):c.374_375del (p.Val125fs)
NM_001625.4(AK2):c.409C>T (p.Arg137Ter) rs1476680673
NM_001625.4(AK2):c.453del (p.Tyr152fs) rs1553151177
NM_001625.4(AK2):c.494A>G (p.Asp165Gly) rs267606643
NM_001625.4(AK2):c.523del (p.Arg175fs) rs1553150995
NM_001625.4(AK2):c.545C>A (p.Ala182Asp) rs559947967
NM_001625.4(AK2):c.597_599dup (p.Tyr200Ter) rs2124279569
NM_001625.4(AK2):c.636_*4953del (p.Ser213fs)
NM_001625.4(AK2):c.697A>T (p.Lys233Ter) rs267606646
NM_001625.4(AK2):c.84dup (p.Gly29fs) rs1640610158
NM_002872.5(RAC2):c.101C>A (p.Pro34His) rs1927393826
NM_002872.5(RAC2):c.167G>A (p.Trp56Ter) rs2145824966
NM_002872.5(RAC2):c.169G>A (p.Asp57Asn) rs74315507
NM_002872.5(RAC2):c.184G>A (p.Glu62Lys) rs1555908409
NM_002872.5(RAC2):c.275A>C (p.Asn92Thr) rs1927078072
NM_005356.5(LCK):c.1022T>C (p.Leu341Pro) rs587777335
NM_005356.5(LCK):c.1126del (p.Thr375_Leu376insTer)
NM_005356.5(LCK):c.1129dup (p.Ser377fs) rs1569967422
NM_005356.5(LCK):c.115C>T (p.Arg39Ter)
NM_005356.5(LCK):c.1201A>T (p.Lys401Ter) rs1640406042
NM_005356.5(LCK):c.1318C>T (p.Pro440Ser)
NM_005356.5(LCK):c.1393T>C (p.Cys465Arg)
NM_005356.5(LCK):c.188-2A>G
NM_005356.5(LCK):c.415del (p.Arg139fs) rs1640237880
NM_005356.5(LCK):c.477del (p.Ala160fs) rs2124355238
NM_006904.7(PRKDC):c.10721C>T (p.Ala3574Val) rs587777686
NM_006904.7(PRKDC):c.1777-710dup rs546905091
NM_006904.7(PRKDC):c.9185T>G (p.Leu3062Arg) rs587777685
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_024782.3(NHEJ1):c.134G>A (p.Trp45Ter)
NM_024782.3(NHEJ1):c.169C>G (p.Arg57Gly) rs118204451
NM_024782.3(NHEJ1):c.177+1_177+3delinsTT rs886037606
NM_024782.3(NHEJ1):c.367T>C (p.Cys123Arg) rs118204452
NM_024782.3(NHEJ1):c.369C>A (p.Cys123Ter) rs1949865586
NM_024782.3(NHEJ1):c.526C>T (p.Arg176Ter)
NM_024782.3(NHEJ1):c.530-2A>T rs1064793763
NM_024782.3(NHEJ1):c.532C>T (p.Arg178Ter) rs118204453
NM_024782.3(NHEJ1):c.546del (p.Glu182fs)
NM_024782.3(NHEJ1):c.569_570insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTGTCCTCGTGATACGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAAAATTCCTTCTT (p.Leu190fs)
NM_024782.3(NHEJ1):c.643C>T (p.Gln215Ter) rs1553542017
NM_024782.3(NHEJ1):c.670_671del (p.Gln224fs) rs2106320090
NM_024782.3(NHEJ1):c.75_78dup (p.Val27fs)
NM_024782.3(NHEJ1):c.75del (p.Lys26fs)
NM_024782.3(NHEJ1):c.94C>T (p.Gln32Ter)
NM_206937.2(LIG4):c.1026del (p.Phe342fs)
NM_206937.2(LIG4):c.1037_1044del (p.Gly346fs)
NM_206937.2(LIG4):c.106dup (p.Ile36fs)
NM_206937.2(LIG4):c.1144_1145del (p.Leu382fs) rs1246940345
NM_206937.2(LIG4):c.1150_1153del (p.Lys384fs)
NM_206937.2(LIG4):c.1210del (p.Gln404fs)
NM_206937.2(LIG4):c.1243_1244del (p.Val414_Ile415insTer)
NM_206937.2(LIG4):c.1246_1250dup (p.Leu418fs) rs2138974907
NM_206937.2(LIG4):c.1270_1273del (p.Lys424fs)
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1289dup (p.Met430fs)
NM_206937.2(LIG4):c.1295AAC[1] (p.Gln433del) rs587776663
NM_206937.2(LIG4):c.1383del (p.Glu461fs)
NM_206937.2(LIG4):c.1406G>A (p.Gly469Glu) rs104894420
NM_206937.2(LIG4):c.1430del (p.Gly477fs)
NM_206937.2(LIG4):c.1475del (p.Pro492fs) rs767195999
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1536_1537delinsTT (p.Met512_Lys513delinsIleTer)
NM_206937.2(LIG4):c.1561A>T (p.Lys521Ter)
NM_206937.2(LIG4):c.1578G>A (p.Trp526Ter)
NM_206937.2(LIG4):c.1583del (p.Pro528fs)
NM_206937.2(LIG4):c.1621G>T (p.Gly541Ter)
NM_206937.2(LIG4):c.1636G>T (p.Glu546Ter)
NM_206937.2(LIG4):c.1642_1643del (p.Tyr548fs) rs1594458526
NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs) rs759829934
NM_206937.2(LIG4):c.1748del (p.Lys583fs)
NM_206937.2(LIG4):c.1751_1755del (p.Ile584fs) rs770128720
NM_206937.2(LIG4):c.1798G>T (p.Glu600Ter)
NM_206937.2(LIG4):c.1870C>T (p.Gln624Ter)
NM_206937.2(LIG4):c.1880dup (p.Arg628fs)
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.1928del (p.His643fs)
NM_206937.2(LIG4):c.1973del (p.Ile658fs)
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NM_206937.2(LIG4):c.2135_2136del (p.Ile712fs) rs1566360837
NM_206937.2(LIG4):c.2175del (p.Trp725fs) rs1286797317
NM_206937.2(LIG4):c.2190del (p.Phe730fs)
NM_206937.2(LIG4):c.220C>T (p.Gln74Ter)
NM_206937.2(LIG4):c.2262del (p.Phe754fs)
NM_206937.2(LIG4):c.226G>T (p.Glu76Ter)
NM_206937.2(LIG4):c.22C>T (p.Gln8Ter)
NM_206937.2(LIG4):c.2305dup (p.Thr769fs) rs1878251067
NM_206937.2(LIG4):c.2316_2332del (p.Gln773fs)
NM_206937.2(LIG4):c.2317C>T (p.Gln773Ter)
NM_206937.2(LIG4):c.2326del (p.Glu776fs)
NM_206937.2(LIG4):c.2426_2430del (p.Pro809fs)
NM_206937.2(LIG4):c.2427dup (p.Leu810fs)
NM_206937.2(LIG4):c.250dup (p.Ile84fs)
NM_206937.2(LIG4):c.2585_2586del (p.His862fs)
NM_206937.2(LIG4):c.2592_2595del (p.Ile864fs) rs765317127
NM_206937.2(LIG4):c.2595del (p.Ile865fs) rs757090161
NM_206937.2(LIG4):c.2645_2646del (p.Thr881_Phe882insTer)
NM_206937.2(LIG4):c.2653_2654dup (p.Phe886fs)
NM_206937.2(LIG4):c.374_375del (p.Phe125fs)
NM_206937.2(LIG4):c.439del (p.Gln147fs)
NM_206937.2(LIG4):c.482del (p.Ala161fs)
NM_206937.2(LIG4):c.536C>G (p.Ser179Ter)
NM_206937.2(LIG4):c.575del (p.Lys192fs)
NM_206937.2(LIG4):c.597_600del (p.Gln200fs) rs752339466
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.678del (p.Arg226fs)
NM_206937.2(LIG4):c.724_725del (p.Leu242fs) rs2138978299
NM_206937.2(LIG4):c.757_758del (p.Ile253fs)
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) rs1566366148
NM_206937.2(LIG4):c.807del (p.Phe268_Tyr269insTer)
NM_206937.2(LIG4):c.832C>G (p.Arg278Gly) rs574912936
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)
NM_206937.2(LIG4):c.839A>G (p.Gln280Arg)
NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)
NM_206937.2(LIG4):c.879_883del (p.Asn294fs) rs751070095
Single allele

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