ClinVar Miner

List of variants reported as pathogenic for retinal disorder by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902 0.00137
NM_001844.5(COL2A1):c.2659C>T (p.Arg887Ter) rs1399676515 0.00001
NM_000274.4(OAT):c.648+2T>C
NM_000321.3(RB1):c.1696-1G>A rs794727199
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His) rs794727634
NM_001844.5(COL2A1):c.1957C>T (p.Arg653Ter) rs121912893
NM_001844.5(COL2A1):c.3280C>T (p.Gln1094Ter) rs2136520087
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) rs80358295
NM_012338.4(TSPAN12):c.176_179del (p.Tyr59fs) rs1278815943

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.