ClinVar Miner

List of variants in gene IRAK4 reported as likely benign for Immunodeficiency 67

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Gene type:
ClinVar version:
Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_016123.4(IRAK4):c.318C>G (p.Pro106=) rs56338336 0.00520
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.1169A>G (p.His390Arg) rs4251583 0.00109
NM_016123.4(IRAK4):c.291G>A (p.Ala97=) rs17851028 0.00078
NM_016123.4(IRAK4):c.720T>C (p.Cys240=) rs144854858 0.00036
NM_016123.4(IRAK4):c.651+15C>T rs374133654 0.00032
NM_016123.4(IRAK4):c.825T>C (p.Ser275=) rs140210540 0.00024
NM_016123.4(IRAK4):c.1171C>T (p.Arg391Cys) rs114820168 0.00017
NM_016123.4(IRAK4):c.13A>G (p.Ile5Val) rs56312115 0.00011
NM_016123.4(IRAK4):c.561T>C (p.Val187=) rs137949295 0.00010
NM_016123.4(IRAK4):c.916C>A (p.His306Asn) rs115573494 0.00007
NM_016123.4(IRAK4):c.123A>G (p.Lys41=) rs551138584 0.00006
NM_016123.4(IRAK4):c.479T>A (p.Val160Asp) rs201782959 0.00006
NM_016123.4(IRAK4):c.652-15A>G rs763717073 0.00006
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.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.99G>A (p.Lys33=) rs115877973 0.00004
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.1125+10G>A rs199616509 0.00002
NM_016123.4(IRAK4):c.1191A>G (p.Leu397=) rs773095217 0.00002
NM_016123.4(IRAK4):c.161+19T>C rs771160342 0.00002
NM_016123.4(IRAK4):c.990T>C (p.Phe330=) rs749864140 0.00002
NM_016123.4(IRAK4):c.*854A>G rs567630494 0.00001
NM_016123.4(IRAK4):c.1189-14C>T rs1429624728 0.00001
NM_016123.4(IRAK4):c.1347+15T>C rs777843742 0.00001
NM_016123.4(IRAK4):c.161+9T>A rs778147335 0.00001
NM_016123.4(IRAK4):c.231A>C (p.Thr77=) rs772817746 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.612C>T (p.Tyr204=) rs753538997 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.882T>A (p.Gly294=) rs1941467982 0.00001
NM_016123.4(IRAK4):c.900T>C (p.Asn300=) rs536101269 0.00001
NM_016123.4(IRAK4):c.1125+12A>G
NM_016123.4(IRAK4):c.1126-16T>C
NM_016123.4(IRAK4):c.1134A>G (p.Leu378=) rs2138059118
NM_016123.4(IRAK4):c.1149A>G (p.Gly383=)
NM_016123.4(IRAK4):c.1186T>C (p.Leu396=)
NM_016123.4(IRAK4):c.1189-4A>G rs2138085347
NM_016123.4(IRAK4):c.12C>G (p.Pro4=)
NM_016123.4(IRAK4):c.1302T>C (p.Ser434=)
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.161+7_161+8del
NM_016123.4(IRAK4):c.219C>T (p.Asp73=) rs374971450
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.345A>G (p.Lys115=)
NM_016123.4(IRAK4):c.36C>T (p.Arg12=) rs2137900325
NM_016123.4(IRAK4):c.423T>C (p.Leu141=)
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.528C>A (p.Val176=)
NM_016123.4(IRAK4):c.624A>C (p.Thr208=) rs1555168129
NM_016123.4(IRAK4):c.651+7T>C
NM_016123.4(IRAK4):c.676C>T (p.Leu226=) rs2137961403
NM_016123.4(IRAK4):c.717-11A>G
NM_016123.4(IRAK4):c.741A>G (p.Glu247=) rs2137999182
NM_016123.4(IRAK4):c.807A>G (p.Ser269=)
NM_016123.4(IRAK4):c.822C>T (p.Leu274=) rs755330743
NM_016123.4(IRAK4):c.885A>C (p.Ala295=)
NM_016123.4(IRAK4):c.906A>G (p.Leu302=)
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

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