Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_002420.6:c.2782C>T | 1 | NA | ||
| NM_002420.6:c.2999G>A | 1 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 613216.3 | United Arab Emirates | Congenital stationary night blindness | Male |