ClinVar Miner

List of variants studied for agammaglobulinemia by Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NM_000061.2(BTK):c.1116G>C (p.Arg372Ser) rs1555978024
NM_000061.2(BTK):c.141+3_141+6del rs1555980866
NM_000061.2(BTK):c.1475G>A (p.Arg492His) rs782338603
NM_000061.2(BTK):c.1558C>T (p.Arg520Ter) rs128621201
NM_000061.2(BTK):c.1567-2A>T rs1555977598
NM_000061.2(BTK):c.1574G>A (p.Arg525Gln) rs128620183
NM_000061.2(BTK):c.1581_1584del (p.Cys527fs) rs1555977592
NM_000061.2(BTK):c.161del (p.Gly54fs) rs1555980799
NM_000061.2(BTK):c.1630_1631+3delinsGAAA rs1555977580
NM_000061.2(BTK):c.1684C>T (p.Arg562Trp) rs128621204
NM_000061.2(BTK):c.1706T>C (p.Leu569Pro) rs1555977461
NM_000061.2(BTK):c.1946del (p.Ser649fs) rs1555976766
NM_000061.2(BTK):c.371G>A (p.Trp124Ter) rs1555980049
NM_000061.2(BTK):c.435C>A (p.Cys145Ter) rs1555978891
NM_000061.2(BTK):c.763C>T (p.Arg255Ter) rs128621193
NM_000061.2(BTK):c.83G>A (p.Arg28His) rs128620185
NM_000061.2(BTK):c.863G>A (p.Arg288Gln) rs1555978277
NM_000061.2(BTK):c.953C>T (p.Ser318Phe) rs1555978197

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.