ClinVar Miner

List of variants studied for Noonan syndrome by GenomeConnect, ClinGen

Included ClinVar conditions (44):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002524.5(NRAS):c.317C>T (p.Ser106Leu) rs797045795
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006939.4(SOS2):c.3530C>T (p.Pro1177Leu) rs1566814839

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.