ClinVar Miner

List of variants reported as uncertain significance for retinal disorder by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.3361A>G (p.Asn1121Asp) rs80358317 0.00021
NM_007186.6(CEP250):c.1826C>T (p.Ala609Val) rs145878385 0.00020
NM_000329.3(RPE65):c.1597T>A (p.Ser533Thr) rs577335767 0.00001
NM_000329.3(RPE65):c.484A>C (p.Thr162Pro) rs774309607 0.00001
NM_000180.4(GUCY2D):c.2798T>C (p.Val933Ala) rs1567961904
NM_000329.3(RPE65):c.1328T>C (p.Val443Ala) rs1645824187
NM_000329.3(RPE65):c.354G>T (p.Arg118Ser) rs1015895028
NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu) rs776251040
NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile) rs904381536
NM_001384910.1(GUCA1A):c.444T>A (p.Asp148Glu) rs1768036096
NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe) rs794727777
NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro) rs1781948884
NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe) rs1051579797
NM_004311.4(ARL3):c.269A>G (p.Tyr90Cys) rs1564730440
NM_014003.4(DHX38):c.995G>A (p.Gly332Asp) rs587777554

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.