ClinVar Miner

List of variants reported as pathogenic for hyper-IgM syndrome type 1 by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
CD40LG, 10-BP DEL
CD40LG, THR211ASP
NG_007280.1:g.5145_5146insAluAluYb8inv
NM_000074.2(CD40LG):c.[384T>A;386A>G]
NM_000074.3(CD40LG):c.107T>A (p.Met36Lys) rs104894774
NM_000074.3(CD40LG):c.107T>G (p.Met36Arg) rs104894774
NM_000074.3(CD40LG):c.189dup (p.Val64fs) rs193922134
NM_000074.3(CD40LG):c.349_409+2del rs2148552900
NM_000074.3(CD40LG):c.368C>A (p.Ala123Glu) rs104894778
NM_000074.3(CD40LG):c.412_419del
NM_000074.3(CD40LG):c.418T>G (p.Trp140Gly) rs104894777
NM_000074.3(CD40LG):c.419G>A (p.Trp140Ter) rs104894775
NM_000074.3(CD40LG):c.464T>C (p.Leu155Pro) rs104894769
NM_000074.3(CD40LG):c.680G>T (p.Gly227Val) rs104894768
NM_000074.3(CD40LG):c.703G>C (p.Ala235Pro) rs104894771

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.