ClinVar Miner

List of variants studied for Hyperimmunoglobulin M syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020661.4(AICDA):c.-84A>G rs1345004 0.99525
NM_020661.4(AICDA):c.*1453_*1454insG rs201738977 0.01403
NM_001250.5(CD40):c.-69delT rs11569300 0.01244
NM_020661.4(AICDA):c.428-4_428-3insT rs755095913 0.00272
NM_001250.6(CD40):c.*119C>T rs746182207 0.00004
NM_001250.6(CD40):c.*216A>C rs886056719 0.00004
NM_001250.6(CD40):c.*338A>G rs886056721 0.00003
NM_000074.3(CD40LG):c.347-1G>A rs2076118841
NM_001250.6(CD40):c.647-4_647-3dup rs749590513
NM_020661.4(AICDA):c.428-17_428-16dup rs5796316
NM_020661.4(AICDA):c.428-17dup rs5796316
NM_080911.3(UNG):c.*500C>G rs780337127
NM_080911.3(UNG):c.*788dup rs200602841
NM_080911.3(UNG):c.*866AT[5] rs56185014
NM_080911.3(UNG):c.*866AT[9] rs56185014

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.