ClinVar Miner

List of variants reported as uncertain significance for color vision disorder by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1397T>C (p.Met466Thr) rs35010099 0.00978
NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg) rs190014426 0.00034
NM_006204.4(PDE6C):c.2156T>C (p.Met719Thr) rs1460255181 0.00003
NM_019098.5(CNGB3):c.2103G>C (p.Gln701His) rs770214046 0.00003
NM_001298.3(CNGA3):c.1615G>A (p.Val539Met) rs374275399 0.00002
NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys) rs754414120 0.00002
NM_019098.5(CNGB3):c.1320+4A>G rs1026427970 0.00002
NM_001298.3(CNGA3):c.1347G>A (p.Lys449=) rs778251470 0.00001
NM_001298.3(CNGA3):c.1A>T (p.Met1Leu) rs1324338876 0.00001
NM_001298.3(CNGA3):c.609G>T (p.Trp203Cys) rs757650055 0.00001
NM_001298.3(CNGA3):c.1889T>C (p.Val630Ala) rs2104250774
NM_001298.3(CNGA3):c.450-15T>G rs2104229048
NM_001298.3(CNGA3):c.479T>G (p.Val160Gly) rs201713771
NM_001298.3(CNGA3):c.566G>A (p.Arg189Lys) rs2104229996
NM_001298.3(CNGA3):c.66C>T (p.Asp22=) rs2104175460
NM_001298.3(CNGA3):c.670A>G (p.Thr224Ala) rs2104236067
NM_001298.3(CNGA3):c.743A>G (p.Gln248Arg) rs2104245407
NM_001298.3(CNGA3):c.772C>G (p.Pro258Ala) rs1477725731
NM_001298.3(CNGA3):c.796G>A (p.Val266Met) rs536335712
NM_001377295.2(GNAT2):c.461+24G>A rs397515384
NM_001377295.2(GNAT2):c.593T>A (p.Met198Lys) rs1557918635
NM_001377295.2(GNAT2):c.620A>T (p.Glu207Val) rs1557918619
NM_001377295.2(GNAT2):c.623G>C (p.Arg208Thr) rs995152260
NM_001377295.2(GNAT2):c.886T>C (p.Tyr296His) rs757147586
NM_001377295.2(GNAT2):c.943G>A (p.Asp315Asn) rs950519744
NM_006204.4(PDE6C):c.1637C>A (p.Thr546Asn) rs143394832
NM_006204.4(PDE6C):c.2141T>A (p.Ile714Asn) rs1064797148
NM_006204.4(PDE6C):c.2246G>A (p.Gly749Glu) rs1554892155
NM_006204.4(PDE6C):c.2288T>C (p.Met763Thr) rs1554892197
NM_006204.4(PDE6C):c.2294A>G (p.Asp765Gly) rs1554892199
NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp) rs375795507
NM_019098.5(CNGB3):c.1056-3C>G rs1554611763
NM_019098.5(CNGB3):c.1190_1192del (p.Cys397del) rs765574129
NM_019098.5(CNGB3):c.1673G>T (p.Gly558Val) rs1262707163
NM_019098.5(CNGB3):c.1783C>T (p.Leu595Phe) rs1554604849

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.