ClinVar Miner

List of variants reported for Agammaglobulinemia 8, autosomal dominant; Agammaglobulinemia 8b, autosomal recessive by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003200.5(TCF3):c.1713G>A (p.Glu571=) rs143212973 0.00394
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_003200.5(TCF3):c.1564A>C (p.Lys522Gln) rs201831565 0.00029
NM_003200.5(TCF3):c.823-13C>T rs148835727 0.00019
NM_003200.5(TCF3):c.1948C>A (p.Pro650Thr) rs7252811 0.00013
NM_003200.5(TCF3):c.1430G>A (p.Arg477Gln) rs199957863 0.00012
NM_003200.5(TCF3):c.1541C>T (p.Ser514Leu) rs372168347 0.00006
NM_003200.5(TCF3):c.1327-3C>A rs369551101 0.00001

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.