Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_003235.5:c.638+5G>A | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 274700.3.1 | Iraq | Congenital hypothyroidism | Male | Yes | Yes | |
| 274700.3.2 | Iraq | Congenital hypothyroidism | Female | Yes | Yes | Sister of 274700.3.1 |
| 274700.3.4 | Iraq | Female | Mother of 274700.3.1 |