ClinVar Miner

List of variants studied for Immunodeficiency 67

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Minimum conflict level:
ClinVar version:
Total variants: 288
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HGVS dbSNP gnomAD frequency
NM_016123.4(IRAK4):c.*2188A>G rs1141168 0.42335
NM_016123.4(IRAK4):c.*1794T>C rs4251555 0.23988
NM_016123.4(IRAK4):c.*2433T>C rs9849 0.21802
NM_016123.4(IRAK4):c.1282G>A (p.Ala428Thr) rs4251545 0.15022
NM_016123.4(IRAK4):c.*1895G>A rs4251558 0.06270
NM_016123.4(IRAK4):c.*1887C>T rs4251556 0.05478
NM_016123.4(IRAK4):c.*623A>G rs4251552 0.04621
NM_016123.4(IRAK4):c.*2704C>T rs4251562 0.01948
NM_016123.4(IRAK4):c.*1760G>A rs144535012 0.01652
NM_016123.4(IRAK4):c.*146T>C rs4251546 0.01572
NM_016123.4(IRAK4):c.*608A>G rs4251551 0.01257
NM_016123.4(IRAK4):c.*2761G>A rs4251563 0.01239
NM_016123.4(IRAK4):c.*270C>T rs4251547 0.01024
NM_016123.4(IRAK4):c.1172G>A (p.Arg391His) rs55944915 0.00992
NM_016123.4(IRAK4):c.*1777A>T rs4251554 0.00905
NM_016123.4(IRAK4):c.*2083C>G rs111813306 0.00814
NM_016123.4(IRAK4):c.1126-19A>T rs11182263 0.00802
NM_016123.4(IRAK4):c.307+18A>G rs118097313 0.00685
NM_016123.4(IRAK4):c.941+18A>G rs11182261 0.00683
NM_016123.4(IRAK4):c.318C>G (p.Pro106=) rs56338336 0.00520
NM_016123.4(IRAK4):c.*1272G>T rs182497864 0.00517
NM_016123.4(IRAK4):c.*1974G>A rs12321678 0.00451
NM_016123.4(IRAK4):c.*989T>G rs4251584 0.00232
NM_016123.4(IRAK4):c.*281A>G rs4251548 0.00211
NM_016123.4(IRAK4):c.*520T>A rs4251550 0.00183
NM_016123.4(IRAK4):c.*1753C>T rs558662153 0.00149
NM_016123.4(IRAK4):c.*1588G>A rs778083287 0.00145
NM_016123.4(IRAK4):c.*2198T>C rs563217241 0.00129
NM_016123.4(IRAK4):c.-66G>A rs570128219 0.00117
NM_016123.4(IRAK4):c.-65C>A rs537056241 0.00116
NM_016123.4(IRAK4):c.1169A>G (p.His390Arg) rs4251583 0.00109
NM_016123.4(IRAK4):c.*2817A>G rs4251564 0.00103
NM_016123.4(IRAK4):c.*1876G>A rs528687727 0.00090
NM_016123.4(IRAK4):c.117T>A (p.Ile39=) rs141039652 0.00083
NM_016123.4(IRAK4):c.291G>A (p.Ala97=) rs17851028 0.00078
NM_016123.4(IRAK4):c.346G>A (p.Glu116Lys) rs62642475 0.00067
NM_016123.4(IRAK4):c.*1187C>T rs755598323 0.00044
NM_016123.4(IRAK4):c.529A>G (p.Thr177Ala) rs141209982 0.00044
NM_016123.4(IRAK4):c.720T>C (p.Cys240=) rs144854858 0.00036
NM_016123.4(IRAK4):c.*1161G>A rs545334973 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_016123.4(IRAK4):c.651+15C>T rs374133654 0.00032
NM_016123.4(IRAK4):c.*1325G>A rs139778399 0.00029
NM_016123.4(IRAK4):c.*2563G>A rs756483703 0.00029
NM_016123.4(IRAK4):c.*319A>G rs769535835 0.00025
NM_016123.4(IRAK4):c.825T>C (p.Ser275=) rs140210540 0.00024
NM_016123.4(IRAK4):c.58A>T (p.Arg20Trp) rs143625818 0.00021
NM_016123.4(IRAK4):c.*2725C>G rs766712571 0.00018
NM_016123.4(IRAK4):c.1171C>T (p.Arg391Cys) rs114820168 0.00017
NM_016123.4(IRAK4):c.691G>A (p.Asp231Asn) rs111935971 0.00016
NM_016123.4(IRAK4):c.*1115G>T rs886049391 0.00014
NM_016123.4(IRAK4):c.*2014G>A rs533723416 0.00014
NM_016123.4(IRAK4):c.*1925C>T rs927658723 0.00013
NM_016123.4(IRAK4):c.*2076C>T rs886049395 0.00013
NM_016123.4(IRAK4):c.*1668C>G rs576135948 0.00012
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val) rs56312115 0.00011
NM_016123.4(IRAK4):c.490+16A>C rs186000885 0.00011
NM_016123.4(IRAK4):c.*1199G>A rs1016308230 0.00010
NM_016123.4(IRAK4):c.561T>C (p.Val187=) rs137949295 0.00010
NM_016123.4(IRAK4):c.*2345A>G rs368152755 0.00009
NM_016123.4(IRAK4):c.547C>T (p.Arg183Ter) rs114951157 0.00008
NM_016123.4(IRAK4):c.916C>A (p.His306Asn) rs115573494 0.00007
NM_016123.3(IRAK4):c.-89G>T rs1001546175 0.00006
NM_016123.4(IRAK4):c.*1515C>T rs536073958 0.00006
NM_016123.4(IRAK4):c.123A>G (p.Lys41=) rs551138584 0.00006
NM_016123.4(IRAK4):c.206A>C (p.Glu69Ala) rs202134282 0.00006
NM_016123.4(IRAK4):c.479T>A (p.Val160Asp) rs201782959 0.00006
NM_016123.4(IRAK4):c.613G>A (p.Val205Ile) rs370225662 0.00006
NM_016123.4(IRAK4):c.652-15A>G rs763717073 0.00006
NM_016123.4(IRAK4):c.*2374A>G rs892426318 0.00005
NM_016123.4(IRAK4):c.1063A>C (p.Met355Leu) rs142376871 0.00005
NM_016123.4(IRAK4):c.1229T>C (p.Ile410Thr) rs146538989 0.00005
NM_016123.4(IRAK4):c.652-3del rs768745789 0.00005
NM_016123.4(IRAK4):c.670G>A (p.Glu224Lys) rs201500711 0.00005
NM_016123.4(IRAK4):c.742C>T (p.Leu248=) rs375755560 0.00005
NM_016123.4(IRAK4):c.*2071C>T rs776314485 0.00004
NM_016123.4(IRAK4):c.1125+14A>G rs941148757 0.00004
NM_016123.4(IRAK4):c.1125+9C>T rs748823789 0.00004
NM_016123.4(IRAK4):c.1338C>T (p.Asp446=) rs138719119 0.00004
NM_016123.4(IRAK4):c.35G>A (p.Arg12His) rs370524518 0.00004
NM_016123.4(IRAK4):c.427C>A (p.Gln143Lys) rs773476797 0.00004
NM_016123.4(IRAK4):c.749G>A (p.Gly250Asp) rs769470855 0.00004
NM_016123.4(IRAK4):c.99G>A (p.Lys33=) rs115877973 0.00004
NM_016123.4(IRAK4):c.1371G>A (p.Met457Ile) rs766606181 0.00003
NM_016123.4(IRAK4):c.771C>T (p.Asp257=) rs767075679 0.00003
NM_016123.4(IRAK4):c.942-17C>T rs899614885 0.00003
NM_016123.4(IRAK4):c.*1162T>G rs886049392 0.00002
NM_016123.4(IRAK4):c.*1594G>A rs927867279 0.00002
NM_016123.4(IRAK4):c.*2471G>A rs886049396 0.00002
NM_016123.4(IRAK4):c.*629T>G rs1231360824 0.00002
NM_016123.4(IRAK4):c.1124T>C (p.Val375Ala) rs779773825 0.00002
NM_016123.4(IRAK4):c.1125+10G>A rs199616509 0.00002
NM_016123.4(IRAK4):c.1188+520A>G rs944235493 0.00002
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=) rs773095217 0.00002
NM_016123.4(IRAK4):c.1334C>A (p.Pro445Gln) rs752108446 0.00002
NM_016123.4(IRAK4):c.161+19T>C rs771160342 0.00002
NM_016123.4(IRAK4):c.548G>A (p.Arg183Gln) rs186194251 0.00002
NM_016123.4(IRAK4):c.7A>C (p.Lys3Gln) rs752890848 0.00002
NM_016123.4(IRAK4):c.831+5G>T rs758539498 0.00002
NM_016123.4(IRAK4):c.990T>C (p.Phe330=) rs749864140 0.00002
NM_016123.4(IRAK4):c.*1028T>C rs886049390 0.00001
NM_016123.4(IRAK4):c.*512G>C rs1243163221 0.00001
NM_016123.4(IRAK4):c.*854A>G rs567630494 0.00001
NM_016123.4(IRAK4):c.-75C>T rs886049382 0.00001
NM_016123.4(IRAK4):c.1000C>T (p.Arg334Trp) rs774525787 0.00001
NM_016123.4(IRAK4):c.103T>A (p.Leu35Ile) rs1423382149 0.00001
NM_016123.4(IRAK4):c.1082G>A (p.Arg361His) rs764106350 0.00001
NM_016123.4(IRAK4):c.1109T>C (p.Ile370Thr) rs372448559 0.00001
NM_016123.4(IRAK4):c.1125+5G>A rs1234743900 0.00001
NM_016123.4(IRAK4):c.1148G>A (p.Gly383Glu) rs755772831 0.00001
NM_016123.4(IRAK4):c.1188+6T>C rs372909606 0.00001
NM_016123.4(IRAK4):c.1189-14C>T rs1429624728 0.00001
NM_016123.4(IRAK4):c.1240A>G (p.Ile414Val) rs758846627 0.00001
NM_016123.4(IRAK4):c.1291T>G (p.Ser431Ala) rs769754150 0.00001
NM_016123.4(IRAK4):c.1347+15T>C rs777843742 0.00001
NM_016123.4(IRAK4):c.1347G>A (p.Lys449=) rs2040738109 0.00001
NM_016123.4(IRAK4):c.1369A>T (p.Met457Leu) rs1565689685 0.00001
NM_016123.4(IRAK4):c.161+9T>A rs778147335 0.00001
NM_016123.4(IRAK4):c.161G>A (p.Arg54Lys) rs1345805635 0.00001
NM_016123.4(IRAK4):c.231A>C (p.Thr77=) rs772817746 0.00001
NM_016123.4(IRAK4):c.266T>C (p.Ile89Thr) rs758974509 0.00001
NM_016123.4(IRAK4):c.290C>T (p.Ala97Val) rs764597369 0.00001
NM_016123.4(IRAK4):c.303C>T (p.Leu101=) rs371634312 0.00001
NM_016123.4(IRAK4):c.308-12T>C rs764544279 0.00001
NM_016123.4(IRAK4):c.334C>T (p.Leu112=) rs756185480 0.00001
NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys) rs377584435 0.00001
NM_016123.4(IRAK4):c.376C>T (p.Pro126Ser) rs1379851408 0.00001
NM_016123.4(IRAK4):c.406A>G (p.Thr136Ala) rs769345767 0.00001
NM_016123.4(IRAK4):c.424G>C (p.Glu142Gln) rs762213099 0.00001
NM_016123.4(IRAK4):c.467A>G (p.Lys156Arg) rs780919244 0.00001
NM_016123.4(IRAK4):c.522G>T (p.Lys174Asn) rs771324378 0.00001
NM_016123.4(IRAK4):c.526G>T (p.Val176Phe) rs886049385 0.00001
NM_016123.4(IRAK4):c.598G>C (p.Val200Leu) rs377074100 0.00001
NM_016123.4(IRAK4):c.612C>T (p.Tyr204=) rs753538997 0.00001
NM_016123.4(IRAK4):c.631G>T (p.Ala211Ser) rs1445249498 0.00001
NM_016123.4(IRAK4):c.669T>C (p.Thr223=) rs1232277231 0.00001
NM_016123.4(IRAK4):c.702A>T (p.Ile234=) rs778986995 0.00001
NM_016123.4(IRAK4):c.713C>T (p.Ala238Val) rs886049386 0.00001
NM_016123.4(IRAK4):c.77T>C (p.Ile26Thr) rs138116867 0.00001
NM_016123.4(IRAK4):c.783A>G (p.Val261=) rs1465941653 0.00001
NM_016123.4(IRAK4):c.811C>A (p.Leu271Ile) rs1001238686 0.00001
NM_016123.4(IRAK4):c.832G>A (p.Asp278Asn) rs757311009 0.00001
NM_016123.4(IRAK4):c.850T>C (p.Ser284Pro) rs778616067 0.00001
NM_016123.4(IRAK4):c.882T>A (p.Gly294=) rs1941467982 0.00001
NM_016123.4(IRAK4):c.889A>G (p.Asn297Asp) rs556565376 0.00001
NM_016123.4(IRAK4):c.900T>C (p.Asn300=) rs536101269 0.00001
NM_016123.4(IRAK4):c.938A>C (p.Lys313Thr) rs1555169543 0.00001
NM_016123.4(IRAK4):c.93A>T (p.Gly31=) rs1367304662 0.00001
NC_000012.11:g.(?_44161915)_(44180518_?)del
NC_000012.11:g.(?_44171413)_(44180518_?)del
NC_000012.11:g.(?_44176090)_(44176313_?)del
NC_000012.11:g.(?_44177445)_(44180538_?)del
NC_000012.11:g.(?_44180182)_(44180518_?)del
NC_000012.12:g.43775405_43788500del
NM_016123.4(IRAK4):c.*1289C>A rs150604439
NM_016123.4(IRAK4):c.*1306C>T rs770097373
NM_016123.4(IRAK4):c.*1435T>G rs886049393
NM_016123.4(IRAK4):c.*1999dup rs886049394
NM_016123.4(IRAK4):c.*2666G>A rs375914722
NM_016123.4(IRAK4):c.*2666G>T rs375914722
NM_016123.4(IRAK4):c.*2826G>A rs1942426512
NM_016123.4(IRAK4):c.*574C>T rs886049389
NM_016123.4(IRAK4):c.*81CTT[1] rs886049388
NM_016123.4(IRAK4):c.-16C>G rs886049384
NM_016123.4(IRAK4):c.-54G>A rs886049383
NM_016123.4(IRAK4):c.-5A>G rs1940358230
NM_016123.4(IRAK4):c.1019C>T (p.Ala340Val) rs2138046830
NM_016123.4(IRAK4):c.1039A>T (p.Arg347Ter)
NM_016123.4(IRAK4):c.1049del (p.Gly350fs) rs1941856970
NM_016123.4(IRAK4):c.1063A>G (p.Met355Val)
NM_016123.4(IRAK4):c.1063A>T (p.Met355Leu) rs142376871
NM_016123.4(IRAK4):c.1115G>A (p.Ser372Asn) rs2138047917
NM_016123.4(IRAK4):c.1125+12A>G
NM_016123.4(IRAK4):c.1125+8C>G rs1941865228
NM_016123.4(IRAK4):c.1126-11dup rs753200898
NM_016123.4(IRAK4):c.1126-16T>C
NM_016123.4(IRAK4):c.1126-18T>A rs144296954
NM_016123.4(IRAK4):c.1126-9T>A rs1226593914
NM_016123.4(IRAK4):c.1134A>G (p.Leu378=) rs2138059118
NM_016123.4(IRAK4):c.1135G>T (p.Glu379Ter) rs1429128979
NM_016123.4(IRAK4):c.113C>G (p.Ala38Gly) rs1402262535
NM_016123.4(IRAK4):c.1146del (p.Gly383fs)
NM_016123.4(IRAK4):c.1148G>T (p.Gly383Val) rs755772831
NM_016123.4(IRAK4):c.1149A>G (p.Gly383=)
NM_016123.4(IRAK4):c.1186T>C (p.Leu396=)
NM_016123.4(IRAK4):c.1188G>A (p.Leu396=) rs2138059924
NM_016123.4(IRAK4):c.1189-1G>T rs1565688667
NM_016123.4(IRAK4):c.1189-4A>G rs2138085347
NM_016123.4(IRAK4):c.1195A>G (p.Ile399Val)
NM_016123.4(IRAK4):c.1204G>T (p.Glu402Ter)
NM_016123.4(IRAK4):c.123dup (p.Pro42fs) rs1940376224
NM_016123.4(IRAK4):c.1290C>G (p.Tyr430Ter) rs1007276082
NM_016123.4(IRAK4):c.12C>G (p.Pro4=)
NM_016123.4(IRAK4):c.1302T>C (p.Ser434=)
NM_016123.4(IRAK4):c.1317A>C (p.Glu439Asp)
NM_016123.4(IRAK4):c.1327A>G (p.Lys443Glu)
NM_016123.4(IRAK4):c.1329G>C (p.Lys443Asn)
NM_016123.4(IRAK4):c.1340T>A (p.Ile447Asn)
NM_016123.4(IRAK4):c.1347+13del rs751119487
NM_016123.4(IRAK4):c.1347+14A>G
NM_016123.4(IRAK4):c.1374A>G (p.Thr458=) rs2138089009
NM_016123.4(IRAK4):c.143dup (p.Tyr48Ter)
NM_016123.4(IRAK4):c.149A>T (p.Gln50Leu)
NM_016123.4(IRAK4):c.161+7_161+8del
NM_016123.4(IRAK4):c.169G>A (p.Glu57Lys)
NM_016123.4(IRAK4):c.181C>T (p.Gln61Ter)
NM_016123.4(IRAK4):c.219C>T (p.Asp73=) rs374971450
NM_016123.4(IRAK4):c.224del (p.Gly75fs) rs1555167566
NM_016123.4(IRAK4):c.225CAC[1] (p.Thr77del)
NM_016123.4(IRAK4):c.229A>G (p.Thr77Ala) rs1555167569
NM_016123.4(IRAK4):c.232A>G (p.Asn78Asp)
NM_016123.4(IRAK4):c.255_260dup (p.Asp86_Leu87dup) rs1450996169
NM_016123.4(IRAK4):c.274_281dup (p.Phe94fs)
NM_016123.4(IRAK4):c.284C>T (p.Ala95Val) rs1940738214
NM_016123.4(IRAK4):c.288_304del (p.Ala97fs) rs2137931667
NM_016123.4(IRAK4):c.303C>G (p.Leu101=) rs371634312
NM_016123.4(IRAK4):c.307+17_307+18inv
NM_016123.4(IRAK4):c.307+8G>A
NM_016123.4(IRAK4):c.307+8G>C rs1008518843
NM_016123.4(IRAK4):c.308-16T>C
NM_016123.4(IRAK4):c.308-19A>G rs1940831418
NM_016123.4(IRAK4):c.316C>T (p.Pro106Ser)
NM_016123.4(IRAK4):c.32T>G (p.Val11Gly) rs1940363408
NM_016123.4(IRAK4):c.331A>G (p.Thr111Ala)
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_016123.4(IRAK4):c.335T>C (p.Leu112Pro) rs1940836736
NM_016123.4(IRAK4):c.343A>G (p.Lys115Glu)
NM_016123.4(IRAK4):c.345A>G (p.Lys115=)
NM_016123.4(IRAK4):c.354A>G (p.Ile118Met) rs1940838592
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter) rs1416395914
NM_016123.4(IRAK4):c.36C>T (p.Arg12=) rs2137900325
NM_016123.4(IRAK4):c.38G>A (p.Cys13Tyr) rs1163230363
NM_016123.4(IRAK4):c.392A>T (p.Asp131Val) rs757025762
NM_016123.4(IRAK4):c.423T>C (p.Leu141=)
NM_016123.4(IRAK4):c.431G>C (p.Ser144Thr) rs147079926
NM_016123.4(IRAK4):c.447C>G (p.Asp149Glu)
NM_016123.4(IRAK4):c.447CTC[1] (p.Ser152del) rs556809469
NM_016123.4(IRAK4):c.44A>G (p.Asn15Ser)
NM_016123.4(IRAK4):c.488C>T (p.Thr163Ile)
NM_016123.4(IRAK4):c.490+13T>C rs2137943516
NM_016123.4(IRAK4):c.490+20C>T
NM_016123.4(IRAK4):c.491-14T>G
NM_016123.4(IRAK4):c.491-4A>G rs758774758
NM_016123.4(IRAK4):c.518T>A (p.Leu173Ter) rs1940921909
NM_016123.4(IRAK4):c.524del (p.Asn175fs) rs1940922749
NM_016123.4(IRAK4):c.528C>A (p.Val176=)
NM_016123.4(IRAK4):c.537C>G (p.Asn179Lys)
NM_016123.4(IRAK4):c.540del (p.Phe180fs) rs753106997
NM_016123.4(IRAK4):c.562G>C (p.Gly188Arg) rs1677335963
NM_016123.4(IRAK4):c.610T>G (p.Tyr204Asp) rs1940932293
NM_016123.4(IRAK4):c.623_624del (p.Thr208fs) rs1421444086
NM_016123.4(IRAK4):c.624A>C (p.Thr208=) rs1555168129
NM_016123.4(IRAK4):c.629_630del (p.Val210fs)
NM_016123.4(IRAK4):c.651+7T>C
NM_016123.4(IRAK4):c.652delA (p.Met218fs)
NM_016123.4(IRAK4):c.655G>T (p.Val219Phe) rs1941030825
NM_016123.4(IRAK4):c.667A>G (p.Thr223Ala)
NM_016123.4(IRAK4):c.676C>T (p.Leu226=) rs2137961403
NM_016123.4(IRAK4):c.6C>G (p.Asn2Lys) rs1940358839
NM_016123.4(IRAK4):c.717-11A>G
NM_016123.4(IRAK4):c.717-1G>T rs1555169270
NM_016123.4(IRAK4):c.737T>A (p.Val246Glu)
NM_016123.4(IRAK4):c.739G>C (p.Glu247Gln)
NM_016123.4(IRAK4):c.741A>G (p.Glu247=) rs2137999182
NM_016123.4(IRAK4):c.760G>T (p.Asp254Tyr)
NM_016123.4(IRAK4):c.76A>G (p.Ile26Val)
NM_016123.4(IRAK4):c.781del (p.Val261fs) rs1941410085
NM_016123.4(IRAK4):c.784T>C (p.Tyr262His) rs2137999821
NM_016123.4(IRAK4):c.795G>A (p.Met265Ile)
NM_016123.4(IRAK4):c.797C>T (p.Pro266Leu)
NM_016123.4(IRAK4):c.807A>G (p.Ser269=)
NM_016123.4(IRAK4):c.821del (p.Leu274fs) rs1565678077
NM_016123.4(IRAK4):c.822C>T (p.Leu274=) rs755330743
NM_016123.4(IRAK4):c.833A>T (p.Asp278Val) rs780005506
NM_016123.4(IRAK4):c.869A>G (p.Lys290Arg) rs1941465718
NM_016123.4(IRAK4):c.869_885del (p.Lys290fs) rs1941465194
NM_016123.4(IRAK4):c.885A>C (p.Ala295=)
NM_016123.4(IRAK4):c.88G>T (p.Glu30Ter) rs1443126481
NM_016123.4(IRAK4):c.899A>G (p.Asn300Ser)
NM_016123.4(IRAK4):c.906A>G (p.Leu302=)
NM_016123.4(IRAK4):c.916CAT[1] (p.His307del)
NM_016123.4(IRAK4):c.91G>A (p.Gly31Arg) rs2137901159
NM_016123.4(IRAK4):c.924T>A (p.Ile308=)
NM_016123.4(IRAK4):c.941+19_941+20del rs2138007310
NM_016123.4(IRAK4):c.942-11A>G
NM_016123.4(IRAK4):c.942-14T>G
NM_016123.4(IRAK4):c.949A>G (p.Ile317Val)
NM_016123.4(IRAK4):c.951C>G (p.Ile317Met)

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