Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_133497.4:c.427G>T | ||||
| NM_133497.4:c.564G>C |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 610356.G.1 | United Arab Emirates | Cone/cone-rod dystrophy; Reduced visual acuity; Color vision defect | Group of 7 patients diagnosed either at birth or infancy | |||
| 610356.G.3 | United Arab Emirates | Blurred vision; Nyctalopia; Retinal dystrophy; Abnormal macular morphology; Abnormal electroretinogram | Yes | Group of 14 patients from 9 families |