Female
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003235.5:c.475C>T | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274700.1.1 | Saudi Arabia | Congenital hypothyroidism | Male | Yes | Yes | |
| 274700.1.2 | Saudi Arabia | Congenital hypothyroidism | Male | Yes | Yes | Brother of 274700.1.1 |
| 274700.1.3 | Saudi Arabia | Male | Father of 274700.1.1 |