ClinVar Miner

List of variants in gene RHO reported as uncertain significance by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000539.3(RHO):c.299A>G (p.His100Arg) rs143735182 0.00012
NM_000539.3(RHO):c.1021G>A (p.Glu341Lys) rs142322202 0.00003
NM_000539.3(RHO):c.440G>A (p.Arg147His) rs746468201 0.00003
NM_000539.3(RHO):c.53G>A (p.Gly18Asp) rs200946638 0.00003
NM_000539.3(RHO):c.919A>T (p.Ile307Phe) rs771322615 0.00003
NM_000539.3(RHO):c.1028G>A (p.Ser343Asn) rs2084801470
NM_000539.3(RHO):c.176T>G (p.Leu59Arg) rs2108749238
NM_000539.3(RHO):c.25T>G (p.Phe9Val) rs2108749130
NM_000539.3(RHO):c.27C>A (p.Phe9Leu) rs1361105199
NM_000539.3(RHO):c.401A>G (p.Glu134Gly)
NM_000539.3(RHO):c.443T>C (p.Phe148Ser) rs2533024239
NM_000539.3(RHO):c.520G>C (p.Gly174Arg) rs527236103
NM_000539.3(RHO):c.677T>C (p.Leu226Pro) rs2084786958
NM_000539.3(RHO):c.697-3C>A rs2108750429
NM_000539.3(RHO):c.706C>A (p.Gln236Lys) rs2533027694

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.