ClinVar Miner

List of variants reported as pathogenic for Seckel syndrome 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
NM_001184.4(ATR):c.2022A>G (p.Gly674=) rs587776690
NM_001184.4(ATR):c.3043C>T (p.Arg1015Ter) rs0
NM_001184.4(ATR):c.3477G>T (p.Met1159Ile) rs587777851
NM_001184.4(ATR):c.4641+1G>T rs797045403
NM_001184.4(ATR):c.5635G>T (p.Asp1879Tyr) rs387907327
NM_001184.4(ATR):c.6897+464C>G rs587777852

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.