ClinVar Miner

List of variants studied for Noonan syndrome and Noonan-related syndrome by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Included ClinVar conditions (63):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.501G>C (p.Val167=)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_033360.4(KRAS):c.440A>G (p.Lys147Arg) rs1135401776
NM_152594.3(SPRED1):c.774T>G (p.Tyr258Ter) rs1566876690

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.