ClinVar Miner

List of variants studied for Immunodeficiency 33; Ectodermal dysplasia and immunodeficiency 1; Incontinentia pigmenti syndrome; Autoinflammatory disease, X-linked

Minimum submission review status: Collection method:
Minimum conflict level:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001099857.5(IKBKG):c.169G>A (p.Glu57Lys) rs148695964 0.00158
NM_001321396.3(IKBKG):c.-16+3G>A rs782367664 0.00003
NM_001099857.5(IKBKG):c.151C>T (p.Leu51Phe)
NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly) rs2148383298

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. The submitted information has not been verified. If you have questions about the information contained on this website, please see a health care professional.