ClinVar Miner

List of variants reported as uncertain significance for immunodeficiency 35 by Revvity Omics, Revvity

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003331.5(TYK2):c.630-3C>T rs750663278 0.00013
NM_003331.5(TYK2):c.821G>A (p.Arg274His) rs371937276 0.00013
NM_003331.5(TYK2):c.1559G>A (p.Gly520Asp) rs142576987 0.00010
NM_003331.5(TYK2):c.1399G>A (p.Glu467Lys) rs779259245 0.00002
NM_003331.5(TYK2):c.1082C>T (p.Ala361Val) rs373246540
NM_003331.5(TYK2):c.124C>G (p.Pro42Ala) rs147251502
NM_003331.5(TYK2):c.2036G>C (p.Arg679Pro) rs200247986
NM_003331.5(TYK2):c.2228C>T (p.Ala743Val)
NM_003331.5(TYK2):c.789C>T (p.Leu263=)

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.