ClinVar Miner

List of variants studied for Norman-Roberts syndrome by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_005045.4(RELN):c.7181-34G>A rs362706 0.75362
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_005045.4(RELN):c.4589-28A>G rs362726 0.46847
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_005045.4(RELN):c.9443+45C>A rs17151558 0.14621
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_005045.4(RELN):c.4588+14T>C rs362810 0.04203
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.6303-42_6303-40del rs74440147

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.