ClinVar Miner

List of variants in gene CR2 reported as pathogenic for common variable immunodeficiency

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter) rs151093663 0.00065
NM_001006658.3(CR2):c.658C>T (p.Arg220Ter) rs141472681 0.00006
NM_001006658.3(CR2):c.3238C>T (p.Arg1080Ter) rs185689791 0.00004
NM_001006658.3(CR2):c.2625C>A (p.Cys875Ter) rs751868289 0.00003
NM_001006658.3(CR2):c.424C>T (p.Arg142Ter) rs201017642 0.00002
NM_001006658.3(CR2):c.2204C>G (p.Ser735Ter) rs1334688271 0.00001
NM_001006658.3(CR2):c.784G>T (p.Gly262Ter) rs1030733127 0.00001
NM_001006658.3(CR2):c.1231C>T (p.Gln411Ter)
NM_001006658.3(CR2):c.1458del (p.Phe486fs)
NM_001006658.3(CR2):c.1518T>A (p.Tyr506Ter)
NM_001006658.3(CR2):c.1646del (p.Gly549fs) rs1658320297
NM_001006658.3(CR2):c.1659_1660insG (p.Tyr554fs) rs1558192723
NM_001006658.3(CR2):c.1877_1878del (p.Val626fs)
NM_001006658.3(CR2):c.1893T>A (p.Tyr631Ter) rs1331358695
NM_001006658.3(CR2):c.2176_2177dup (p.Gln726fs) rs1658357615
NM_001006658.3(CR2):c.2244C>A (p.Tyr748Ter)
NM_001006658.3(CR2):c.2275C>T (p.Gln759Ter)
NM_001006658.3(CR2):c.2297G>A (p.Trp766Ter) rs398122863
NM_001006658.3(CR2):c.2423del (p.Asp808fs)
NM_001006658.3(CR2):c.243del (p.Lys81fs) rs1572950925
NM_001006658.3(CR2):c.2518C>T (p.Arg840Ter) rs766671758
NM_001006658.3(CR2):c.2864_2865del (p.His955fs) rs2102308703
NM_001006658.3(CR2):c.3070_3088del (p.Leu1024fs)
NM_001006658.3(CR2):c.3211C>T (p.Gln1071Ter) rs369363360
NM_001006658.3(CR2):c.3230T>G (p.Leu1077Ter)
NM_001006658.3(CR2):c.40dup (p.Val14fs)
NM_001006658.3(CR2):c.412del (p.Trp138fs)
NM_001006658.3(CR2):c.462T>A (p.Cys154Ter) rs1572952530
NM_001006658.3(CR2):c.592_595del (p.Ser199fs) rs868255776
NM_001006658.3(CR2):c.593dup (p.Leu198fs) rs763336891
NM_001006658.3(CR2):c.623_624del (p.Pro208fs) rs747832403
NM_001006658.3(CR2):c.624dup (p.Thr209fs) rs747832403
NM_001006658.3(CR2):c.717del (p.Phe241fs) rs1468427986
NM_001006658.3(CR2):c.721_722del (p.Phe241fs) rs749636258

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.