ClinVar Miner

List of variants in gene RPS6KA3 reported as uncertain significance for Coffin-Lowry syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
Download table as spreadsheet
HGVS dbSNP
NM_004586.3(RPS6KA3):c.1237A>G (p.Arg413Gly) rs765914103
NM_004586.3(RPS6KA3):c.1603-5A>G rs1569194162
NM_004586.3(RPS6KA3):c.1877C>T (p.Pro626Leu) rs1555926370
NM_004586.3(RPS6KA3):c.295A>G (p.Met99Val) rs1569232184
NM_004586.3(RPS6KA3):c.707C>T (p.Ala236Val) rs1569216043
NM_004586.3(RPS6KA3):c.754T>C (p.Trp252Arg) rs1569215936
NM_004586.3(RPS6KA3):c.764G>A (p.Gly255Asp) rs1555939335
NM_004586.3(RPS6KA3):c.894_902del (p.Arg300_Leu302del) rs1555933769

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.