ClinVar Miner

List of variants reported as pathogenic for Immunodeficiency 67 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
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
NC_000012.11:g.(?_44161915)_(44180518_?)del
NC_000012.11:g.(?_44176090)_(44176313_?)del
NM_016123.4(IRAK4):c.1039A>T (p.Arg347Ter)
NM_016123.4(IRAK4):c.1135G>T (p.Glu379Ter) rs1429128979
NM_016123.4(IRAK4):c.1146del (p.Gly383fs)
NM_016123.4(IRAK4):c.1204G>T (p.Glu402Ter)
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.540del (p.Phe180fs) rs753106997
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.869_885del (p.Lys290fs) rs1941465194
NM_016123.4(IRAK4):c.88G>T (p.Glu30Ter) rs1443126481

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.