| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.274-2A>G | NA | NA | ||
| NM_000492.3:c.1418del | NA | NA | ||
| NM_000492.3:c.1646G>A | NA | NA | ||
| NM_000492.3:c.2988+1G>A | NA | NA | ||
| NM_000492.3:c.3700A>G | NA | NA | ||
| NM_000492.3:c.3909C>G | NA | NA | ||
| NM_000492.4:c.3540del | NA | NA | ||
| NM_000492.4:c.3472C>T | NA | NA | ||
| NM_000492.4:c.850dup | NA | NA | ||
| NM_000492.4:c.575A>T | NA | NA | ||
| NM_000492.4:c.1393-1G>A | NA | NA | ||
| NM_000492.4:c.3874-2A>G | NA | NA |
| 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.14.4 | United Arab Emirates | Elevated sweat chloride | This variant was reported in 5% of patients. |