| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.4:c.80G>T |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219700.G.14.1 | United Arab Emirates | Elevated sweat chloride | 11 patients (10 homozygous and 1 heterozygous) | |||
| 219700.G.14.2 | United Arab Emirates | Elevated sweat chloride | 9 patients (8 homozygous and 1 heterozygous) | |||
| 219700.G.14.3 | United Arab Emirates | Elevated sweat chloride | 9 patients (5 homozygous and 4 heterozygous) | |||
| 219700.G.14.5 | United Arab Emirates | Elevated sweat chloride | Mutations reported with a population frequency of <5% |