ClinVar Miner

List of variants reported as uncertain significance for Hyper-IgE syndrome by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_203447.4(DOCK8):c.828-7A>G rs200243583 0.00030
NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) rs766493394 0.00001
NM_139276.3(STAT3):c.*2340dup rs886052930
NM_139276.3(STAT3):c.*2343_*2344del rs886052928
NM_139276.3(STAT3):c.*2343del rs886052929
NM_139276.3(STAT3):c.*893dup rs754306251
NM_139276.3(STAT3):c.*894del rs373212106
NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) rs886052942
NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe) rs531279290
NM_203447.4(DOCK8):c.3234+15dup rs375864618
NM_203447.4(DOCK8):c.6068+11A>C rs886063964

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.