ClinVar Miner

List of variants studied for Immunodeficiency 67 by Illumina Laboratory Services, Illumina

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Total variants: 84
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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.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.*2817A>G rs4251564 0.00103
NM_016123.4(IRAK4):c.*1876G>A rs528687727 0.00090
NM_016123.4(IRAK4):c.291G>A (p.Ala97=) rs17851028 0.00078
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.*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.*2725C>G rs766712571 0.00018
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.*1199G>A rs1016308230 0.00010
NM_016123.4(IRAK4):c.*2345A>G rs368152755 0.00009
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.613G>A (p.Val205Ile) rs370225662 0.00006
NM_016123.4(IRAK4):c.*2374A>G rs892426318 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.749G>A (p.Gly250Asp) rs769470855 0.00004
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.1191A>G (p.Leu397=) rs773095217 0.00002
NM_016123.4(IRAK4):c.548G>A (p.Arg183Gln) rs186194251 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.103T>A (p.Leu35Ile) rs1423382149 0.00001
NM_016123.4(IRAK4):c.526G>T (p.Val176Phe) rs886049385 0.00001
NM_016123.4(IRAK4):c.713C>T (p.Ala238Val) rs886049386 0.00001
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.1063A>T (p.Met355Leu) rs142376871
NM_016123.4(IRAK4):c.1125+8C>G rs1941865228
NM_016123.4(IRAK4):c.1347+13del rs751119487

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