ClinVar Miner

List of variants studied for Immunodeficiency, common variable, 2; Immunoglobulin A deficiency 2 by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.641T>C (p.Met214Thr) rs144560464 0.00027
NM_012452.3(TNFRSF13B):c.706G>T (p.Glu236Ter) rs201021960 0.00010
NM_012452.3(TNFRSF13B):c.214C>T (p.Arg72Cys) rs375514495 0.00004
NM_012452.3(TNFRSF13B):c.693C>G (p.Ser231Arg) rs145711865 0.00003
NM_012452.3(TNFRSF13B):c.53A>G (p.Glu18Gly) rs1597672265
NM_012452.3(TNFRSF13B):c.61+1G>A rs1016142312

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.