ClinVar Miner

List of variants reported as likely benign for Nestor-Guillermo progeria syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001143985.1(BANF1):c.-254G>T rs78790365 0.02064
NM_003860.4(BANF1):c.*100C>T rs145574018 0.00424
NM_001143985.1(BANF1):c.-297G>A rs141605220 0.00271
NM_001242481.2(EIF1AD):c.-329G>A rs117774800 0.00044
NM_003860.4(BANF1):c.*273C>G rs142270527 0.00037

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.