ClinVar Miner

List of variants studied for Combined immunodeficiency due to GINS1 deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_021067.5(GINS1):c.289G>A (p.Val97Ile) rs6076347 0.35168
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_021067.5(GINS1):c.256C>T (p.Arg86Trp) rs967614894 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_021067.5(GINS1):c.-48C>G rs974304393
NM_021067.5(GINS1):c.-60A>G rs2146178281
NM_021067.5(GINS1):c.418A>T (p.Met140Leu) rs1270895165
NM_021067.5(GINS1):c.52delinsCA (p.Glu18fs) rs2090256422

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.