ClinVar Miner

List of variants studied for Common variable immunodeficiency by NIHR Bioresource Rare Diseases, University of Cambridge

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala) rs121918575 0.00004
NM_020458.4(TTC7A):c.793C>T (p.Arg265Trp) rs150269540 0.00003
NM_000074.3(CD40LG):c.98T>A (p.Ile33Asn) rs1283517835
NM_000536.4(RAG2):c.629T>C (p.Ile210Thr) rs1590715754
NM_003998.4(NFKB1):c.1423del (p.Ala475fs) rs1578809101
NM_003998.4(NFKB1):c.260T>G (p.Ile87Ser) rs1578771120
NM_003998.4(NFKB1):c.293T>A (p.Val98Asp) rs1578771197
NM_003998.4(NFKB1):c.830dup (p.Lys278fs) rs1578790573
NM_003998.4(NFKB1):c.843C>G (p.Ile281Met) rs1578793298
NM_003998.4(NFKB1):c.850C>T (p.Arg284Ter) rs1578793312
NM_020458.4(TTC7A):c.1802+3G>C rs1572961263
Single allele

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.