List of variants in gene IRAK4 reported as pathogenic for immune system disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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HGVS	dbSNP	gnomAD frequency
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)	rs121908002	0.00035
NM_016123.4(IRAK4):c.547C>T (p.Arg183Ter)	rs114951157	0.00008
NM_016123.4(IRAK4):c.831+5G>T	rs758539498	0.00002
NM_016123.4(IRAK4):c.34C>T (p.Arg12Cys)	rs377584435	0.00001
NC_000012.11:g.(?_44161915)_(44180518_?)del
NC_000012.11:g.(?_44176090)_(44176313_?)del
NC_000012.12:g.43775405_43788500del
NM_016123.4(IRAK4):c.1039A>T (p.Arg347Ter)
NM_016123.4(IRAK4):c.1049del (p.Gly350fs)	rs1941856970
NM_016123.4(IRAK4):c.1135G>T (p.Glu379Ter)	rs1429128979
NM_016123.4(IRAK4):c.1146del (p.Gly383fs)
NM_016123.4(IRAK4):c.1189-1G>T	rs1565688667
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.143dup (p.Tyr48Ter)
NM_016123.4(IRAK4):c.181C>T (p.Gln61Ter)
NM_016123.4(IRAK4):c.224del (p.Gly75fs)	rs1555167566
NM_016123.4(IRAK4):c.274_281dup (p.Phe94fs)
NM_016123.4(IRAK4):c.288_304del (p.Ala97fs)	rs2137931667
NM_016123.4(IRAK4):c.333del (p.Leu112fs)
NM_016123.4(IRAK4):c.364C>T (p.Gln122Ter)	rs1416395914
NM_016123.4(IRAK4):c.518T>A (p.Leu173Ter)	rs1940921909
NM_016123.4(IRAK4):c.524del (p.Asn175fs)	rs1940922749
NM_016123.4(IRAK4):c.540del (p.Phe180fs)	rs753106997
NM_016123.4(IRAK4):c.623_624del (p.Thr208fs)	rs1421444086
NM_016123.4(IRAK4):c.629_630del (p.Val210fs)
NM_016123.4(IRAK4):c.652delA (p.Met218fs)
NM_016123.4(IRAK4):c.781del (p.Val261fs)	rs1941410085
NM_016123.4(IRAK4):c.821del (p.Leu274fs)	rs1565678077
NM_016123.4(IRAK4):c.869_885del (p.Lys290fs)	rs1941465194
NM_016123.4(IRAK4):c.88G>T (p.Glu30Ter)	rs1443126481

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