ClinVar Miner

List of variants studied for combined immunodeficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 413
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_000448.3(RAG1):c.189A>G (p.Pro63=) rs34357808 0.01436
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_000733.4(CD3E):c.507C>T (p.Gly169=) rs2231447 0.00816
NM_000733.4(CD3E):c.498G>A (p.Ala166=) rs78373007 0.00262
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter) rs587781722 0.00021
NM_198053.3(CD247):c.301C>T (p.Gln101Ter) rs55729925 0.00021
NM_000732.6(CD3D):c.450+6C>T rs193922617 0.00013
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
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_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val) rs193922462 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459 0.00006
NM_000270.4(PNP):c.701G>C (p.Arg234Pro) rs104894451 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_002185.5(IL7R):c.539A>C (p.His180Pro) rs193922642 0.00005
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs) rs587781347 0.00004
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter) rs780619951 0.00004
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter) rs376603775 0.00004
NM_000051.4(ATM):c.5763-1050A>G rs774925473 0.00004
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 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_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_001079.4(ZAP70):c.1155C>T (p.Arg385=) rs193922633 0.00004
NM_002185.5(IL7R):c.353G>A (p.Cys118Tyr) rs193922641 0.00004
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000051.4(ATM):c.2639-384A>G rs1131691154 0.00003
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs) rs730881294 0.00003
NM_000246.4(CIITA):c.2888+1G>A rs372826934 0.00003
NM_000448.3(RAG1):c.1303A>G (p.Met435Val) rs141524540 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.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_002185.5(IL7R):c.2T>G (p.Met1Arg) rs200076125 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000051.4(ATM):c.67C>T (p.Arg23Ter) rs746235533 0.00002
NM_000051.4(ATM):c.8786+1G>A rs17174393 0.00002
NM_000051.4(ATM):c.901+1G>A rs748840480 0.00002
NM_000448.3(RAG1):c.1186C>T (p.Arg396Cys) rs104894289 0.00002
NM_000448.3(RAG1):c.2164G>A (p.Glu722Lys) rs28933392 0.00002
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter) rs1313207845 0.00002
NM_003721.4(RFXANK):c.338-25_338del rs776752313 0.00002
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431 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.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs) rs886041340 0.00001
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter) rs587779815 0.00001
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter) rs749036865 0.00001
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter) rs876660485 0.00001
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter) rs879254093 0.00001
NM_000051.4(ATM):c.1607+1G>T rs772926890 0.00001
NM_000051.4(ATM):c.170G>A (p.Trp57Ter) rs587779818 0.00001
NM_000051.4(ATM):c.2251-10T>G rs730881346 0.00001
NM_000051.4(ATM):c.2T>C (p.Met1Thr) rs786203606 0.00001
NM_000051.4(ATM):c.3154-2A>G rs730881357 0.00001
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter) rs1060501687 0.00001
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833 0.00001
NM_000051.4(ATM):c.3432G>A (p.Leu1144=) rs1060501625 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter) rs864622490 0.00001
NM_000051.4(ATM):c.3G>A (p.Met1Ile) rs781404312 0.00001
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter) rs587781950 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter) rs764389018 0.00001
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile) rs587779844 0.00001
NM_000051.4(ATM):c.5290del (p.Leu1764fs) rs587779846 0.00001
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter) rs786204433 0.00001
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter) rs775036118 0.00001
NM_000051.4(ATM):c.6095+1G>A rs587781584 0.00001
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) rs139770721 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.6573-2A>G rs751168951 0.00001
NM_000051.4(ATM):c.6997dup rs587781299 0.00001
NM_000051.4(ATM):c.742C>T (p.Arg248Ter) rs730881336 0.00001
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter) rs773516672 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter) rs371638537 0.00001
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser) rs748634900 0.00001
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter) rs778269655 0.00001
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter) rs587781597 0.00001
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter) rs587778080 0.00001
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro) rs587782202 0.00001
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter) rs876658716 0.00001
NM_000051.4(ATM):c.875C>T (p.Pro292Leu) rs747727055 0.00001
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs) rs758814126 0.00001
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter) rs121434219 0.00001
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter) rs1948391148 0.00001
NM_000215.4(JAK3):c.1351C>T (p.Arg451Ter) rs267605358 0.00001
NM_000215.4(JAK3):c.1767C>T (p.Gly589=) rs193922362 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.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.2917C>T (p.Arg973Cys) rs1389614116 0.00001
NM_000448.3(RAG1):c.2923C>T (p.Arg975Trp) rs121918570 0.00001
NM_000536.4(RAG2):c.328A>C (p.Met110Leu) rs193922575 0.00001
NM_000733.4(CD3E):c.70+4del rs193922619 0.00001
NM_001079.4(ZAP70):c.1393C>T (p.Arg465Cys) rs113994174 0.00001
NM_001369369.1(FOXN1):c.763C>T (p.Arg255Ter) rs104894562 0.00001
NM_002185.5(IL7R):c.662G>T (p.Ser221Ile) rs587778405 0.00001
NM_003721.4(RFXANK):c.634C>T (p.Arg212Ter) rs747402973 0.00001
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter) rs144104577 0.00001
NM_015599.3(PGM3):c.965T>C (p.Ile322Thr) rs745508510 0.00001
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter) rs372598000 0.00001
NM_206937.2(LIG4):c.845A>T (p.His282Leu) rs777008519 0.00001
NC_000009.11:g.(215030_271626)_(328172_332397)dup
NC_000009.11:g.(215030_271626)_(336719_339005)dup
NC_000009.11:g.(215030_271626)_(399260_404917)dup
NC_000009.11:g.(407070_414781)_(434976_439244)del
NC_000009.11:g.(?_214864)_(215030_271626)del
NC_000009.11:g.(?_214864)_(271730_286460)del
NC_000009.11:g.(?_214864)_(399260_404917)del
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
NC_000011.9:g.(108129803_108137897)_(108239827_?)del
NC_000011.9:g.(108129803_108137897)_(108239830_?)del
NC_000011.9:g.(118215194_118219741)_(118224498_?)del
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.366_367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.466C>A (p.Arg156Ser)
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.845G>T (p.Arg282Leu)
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.975+1G>A rs2065325898
NM_000022.4(ADA):c.996_997del (p.Ser333fs) rs2123508053
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.3(ATM):c.8419delG rs2137023331
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter) rs1555068471
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.1053dup (p.Ile352fs) rs587781984
NM_000051.4(ATM):c.1158del (p.Lys387fs) rs587782085
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer) rs876659450
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer) rs587781598
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter) rs377597949
NM_000051.4(ATM):c.1524del (p.Gly509fs) rs786204737
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs) rs587779817
NM_000051.4(ATM):c.157A>T (p.Lys53Ter) rs876659078
NM_000051.4(ATM):c.192del (p.Leu64fs) rs878853490
NM_000051.4(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.4(ATM):c.2023del (p.Gln675fs)
NM_000051.4(ATM):c.2113del (p.Tyr705fs) rs863224822
NM_000051.4(ATM):c.2140del (p.Thr714fs) rs2080473458
NM_000051.4(ATM):c.217_218del (p.Glu73fs) rs762089971
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter) rs1478081526
NM_000051.4(ATM):c.2250+2T>C rs1555075037
NM_000051.4(ATM):c.2251-1G>A rs876659710
NM_000051.4(ATM):c.2251-4A>G rs786202935
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs) rs587781658
NM_000051.4(ATM):c.237del (p.Lys79fs) rs730881303
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs) rs2135421164
NM_000051.4(ATM):c.2441del (p.Asp814fs) rs1565400045
NM_000051.4(ATM):c.2466+1del rs786202783
NM_000051.4(ATM):c.2502dup (p.Val835fs) rs587779822
NM_000051.4(ATM):c.2639-19_2639-7del rs1591593439
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs) rs757237504
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA rs786202148
NM_000051.4(ATM):c.2921+1G>A rs587781558
NM_000051.4(ATM):c.2921+2dup rs1565424654
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter) rs730881388
NM_000051.4(ATM):c.3085dup (p.Thr1029fs) rs876658502
NM_000051.4(ATM):c.3218dup (p.Phe1074fs) rs876660741
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter) rs774197372
NM_000051.4(ATM):c.3284+1G>A rs864622129
NM_000051.4(ATM):c.331+2T>C rs1555055358
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs) rs587782861
NM_000051.4(ATM):c.370_374del (p.Ile124fs) rs2079237399
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs) rs786201675
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.3894dup (p.Ala1299fs) rs587781823
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs) rs879254189
NM_000051.4(ATM):c.4143dup (p.Pro1382fs) rs730881309
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs) rs2135760623
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs) rs1555097650
NM_000051.4(ATM):c.4358del (p.Ile1453fs) rs2082679287
NM_000051.4(ATM):c.4373del (p.Gly1458fs) rs587781653
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro) rs730881391
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter) rs730881369
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer) rs771936821
NM_000051.4(ATM):c.4625dup (p.Leu1542fs) rs730881304
NM_000051.4(ATM):c.4776+2T>A rs587781927
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.478_482del (p.Ser160fs) rs587780624
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.4844del (p.Lys1615fs) rs1555101791
NM_000051.4(ATM):c.484C>T (p.Gln162Ter) rs1565357383
NM_000051.4(ATM):c.496+5G>A rs796051858
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter) rs786201693
NM_000051.4(ATM):c.5156del (p.Asn1719fs) rs1591702951
NM_000051.4(ATM):c.5177+1G>A rs1131691159
NM_000051.4(ATM):c.5319+2T>C rs1555105842
NM_000051.4(ATM):c.5320-5_5320-2del rs730881310
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter) rs1555106321
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs) rs1555107263
NM_000051.4(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs) rs587779851
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile) rs587781963
NM_000051.4(ATM):c.5977dup (p.Ser1993fs) rs1591758642
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs) rs876660134
NM_000051.4(ATM):c.6015dup (p.Glu2007fs) rs1438576066
NM_000051.4(ATM):c.601C>T (p.Gln201Ter) rs886039666
NM_000051.4(ATM):c.6095+2T>C rs1057516525
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter) rs532480170
NM_000051.4(ATM):c.6198+1G>A rs778031266
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser) rs1555114558
NM_000051.4(ATM):c.6228del (p.Leu2077fs) rs786203008
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter) rs1565503182
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter) rs1591789955
NM_000051.4(ATM):c.6325dup (p.Trp2109fs) rs1555114812
NM_000051.4(ATM):c.6383dup (p.Leu2128fs) rs1198014194
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000051.4(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.4(ATM):c.6452+2T>C rs1064795006
NM_000051.4(ATM):c.6573-1G>C rs1591128291
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs) rs1591129337
NM_000051.4(ATM):c.6808-242_7516-275del
NM_000051.4(ATM):c.681dup (p.Gly228fs) rs1591503359
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter) rs2136334561
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter) rs1282099124
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs) rs878853535
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs) rs864622416
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter) rs587781672
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu) rs587779861
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7515+1G>T rs1591161831
NM_000051.4(ATM):c.7517_7520del rs587781905
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer) rs876659003
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7630-2A>G rs587779866
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs) rs1555124506
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer) rs759965045
NM_000051.4(ATM):c.7834del (p.Arg2612fs) rs2086411154
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs) rs730881293
NM_000051.4(ATM):c.7858del (p.Val2620fs) rs1555125349
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.790del (p.Tyr264fs) rs587781978
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter) rs769523686
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp) rs863224463
NM_000051.4(ATM):c.802C>T (p.Gln268Ter) rs557012154
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs) rs1064793406
NM_000051.4(ATM):c.8103delinsTAT (p.Ile2702_Asp2703insTer)
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter) rs876659872
NM_000051.4(ATM):c.829del (p.Glu277fs)
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+5_8418+8del rs730881295
NM_000051.4(ATM):c.8432del (p.Lys2811fs) rs587782558
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter) rs587781363
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs) rs786203272
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter) rs2088551822
NM_000051.4(ATM):c.8733del (p.Arg2912fs)
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr) rs756899044
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs) rs786203030
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs) rs786204726
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000051.4(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)
NM_000073.3(CD3G):c.213del (p.Lys71fs) rs570768621
NM_000073.3(CD3G):c.213dup (p.Trp72fs) rs570768621
NM_000073.3(CD3G):c.484-1G>A
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter) rs2092262517
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter) rs1569480082
NM_000206.3(IL2RG):c.270-1G>T rs193922346
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys) rs193922347
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs) rs2092261347
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter) rs1057517747
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala) rs193922348
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter) rs1569479994
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser) rs193922349
NM_000206.3(IL2RG):c.703C>T (p.Gln235Ter) rs1556330249
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter) rs193922350
NM_000206.3(IL2RG):c.758-2A>G rs2147747509
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter) rs1064793347
NM_000215.4(JAK3):c.1442-2A>G
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp) rs193922361
NM_000215.4(JAK3):c.1765G>A (p.Gly589Ser) rs886039394
NM_000215.4(JAK3):c.1890G>A (p.Gln630=) rs193922363
NM_000215.4(JAK3):c.1915-11G>A
NM_000215.4(JAK3):c.2141C>T (p.Thr714Met)
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs) rs1555743321
NM_000215.4(JAK3):c.2712C>A (p.Tyr904Ter)
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000215.4(JAK3):c.678_679del (p.Cys227fs) rs193922364
NM_000270.4(PNP):c.286-18G>A rs1026474882
NM_000270.4(PNP):c.520G>C (p.Ala174Pro) rs104894454
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
NM_000377.2(WAS):c.509_510del rs2062418811
NM_000377.3(WAS):c.1157del (p.Pro386fs) rs886041379
NM_000377.3(WAS):c.1271dup (p.Leu425fs) rs1557007312
NM_000377.3(WAS):c.1395_1399dup (p.Val467fs) rs2062432605
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.256C>T (p.Arg86Cys) rs2062412810
NM_000377.3(WAS):c.256del (p.Arg86fs)
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000377.3(WAS):c.257G>C (p.Arg86Pro) rs132630268
NM_000377.3(WAS):c.290G>A (p.Trp97Ter) rs1557006474
NM_000377.3(WAS):c.310C>T (p.Gln104Ter) rs193922414
NM_000377.3(WAS):c.35dup (p.Arg13fs) rs2062410421
NM_000377.3(WAS):c.360+1G>A rs1057520700
NM_000377.3(WAS):c.37C>T (p.Arg13Ter) rs193922415
NM_000377.3(WAS):c.553C>T (p.Gln185Ter) rs1557006672
NM_000377.3(WAS):c.763dup (p.Gln255fs) rs193922416
NM_000377.3(WAS):c.777+1G>A rs1057517845
NM_000377.3(WAS):c.852del (p.Glu285fs) rs1557007035
NM_000377.3(WAS):c.961C>T (p.Arg321Ter) rs1557007123
NM_000377.3(WAS):c.984del (p.Pro330fs)
NM_000448.3(RAG1):c.1210C>T (p.Arg404Trp) rs764981110
NM_000448.3(RAG1):c.1297G>A (p.Val433Met) rs199474679
NM_000448.3(RAG1):c.1438A>G (p.Ser480Gly) rs772340017
NM_000448.3(RAG1):c.1677G>T (p.Arg559Ser) rs199474681
NM_000448.3(RAG1):c.2189G>T (p.Cys730Phe)
NM_000448.3(RAG1):c.2345T>A (p.Val782Asp)
NM_000448.3(RAG1):c.2522G>A (p.Arg841Gln)
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys) rs193922463
NM_000448.3(RAG1):c.775del (p.Ser259fs) rs878853031
NM_000536.4(RAG2):c.104G>C (p.Gly35Ala) rs148508754
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr) rs909264507
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs) rs2138212278
NM_000538.4(RFXAP):c.600+1G>T
NM_000593.6(TAP1):c.-46_-45delinsAT rs1770963822
NM_000732.6(CD3D):c.107del (p.Asn36fs)
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
NM_000733.4(CD3E):c.567+65_567+66del rs386134229
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
NM_001025603.2(RFX5):c.233+1G>T
NM_001025603.2(RFX5):c.555+1G>C rs367771361
NM_001025603.2(RFX5):c.859-2A>G
NM_001033855.3(DCLRE1C):c.1238del (p.Pro413fs)
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter) rs1354336544
NM_001033855.3(DCLRE1C):c.161+2T>G
NM_001033855.3(DCLRE1C):c.1645C>T (p.Gln549Ter)
NM_001033855.3(DCLRE1C):c.247-1G>C rs2131027668
NM_001033855.3(DCLRE1C):c.353G>T (p.Gly118Val)
NM_001033855.3(DCLRE1C):c.95C>T (p.Ser32Phe) rs969498121
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly) rs1573261820
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
NM_001369369.1(FOXN1):c.1216_1247dup (p.Gly418fs)
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
NM_001556.3(IKBKB):c.2205+2T>C rs2130736002
NM_001556.3(IKBKB):c.856C>T (p.Arg286Ter) rs1818665697
NM_001625.4(AK2):c.330+1G>C rs1639559794
NM_001625.4(AK2):c.498_499dup (p.Ile167fs) rs1638975235
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs) rs1398317449
NM_001625.4(AK2):c.523C>G (p.Arg175Gly) rs1375379850
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter) rs1638959411
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs) rs193922640
NM_002185.5(IL7R):c.361dup (p.Ile121fs) rs869312857
NM_002185.5(IL7R):c.437_438del (p.Phe146fs) rs1561423197
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter) rs193922643
NM_002185.5(IL7R):c.644G>T (p.Gly215Val) rs193922645
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
NM_002185.5(IL7R):c.83-18A>G rs193922646
NM_002838.5(PTPRC):c.100+1del rs1665977328
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter) rs920392170
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs) rs2140987866
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
NM_006282.5(STK4):c.831+2T>C
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs) rs2144484602
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs) rs2151063606
NM_015599.3(PGM3):c.-2-185C>T rs565900346
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
NM_015599.3(PGM3):c.1197_1201del (p.Arg399fs)
NM_015599.3(PGM3):c.1539+2T>C rs1786839596
NM_015599.3(PGM3):c.162del (p.Lys54fs)
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser) rs587777562
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter) rs1670398017
NM_020458.4(TTC7A):c.2056_2059delinsTAGT (p.Glu686_Glu687delinsTer)
NM_024782.3(NHEJ1):c.11dup (p.Glu5fs) rs886037607
NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs) rs772226399
NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs) rs759838407
NM_206937.2(LIG4):c.1904del (p.Lys635fs) rs375554612
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter) rs373938258
NM_206937.2(LIG4):c.613del (p.Ser205fs) rs780879476
NM_206937.2(LIG4):c.799_800del (p.Ser267fs) rs1566366148
NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)

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