| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000376.2:c.1024+283G>A | 158 | 0.43 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 601769.G.2.2 | Lebanon | Group of healthy individuals including 15 homozygotes and 89 heterozygotes | ||||
| 601769.G.2.3 | Lebanon | Group of healthy individuals including 128 homozygotes and 178 heterozygotes | ||||
| 601769.G.2.4 | Lebanon | Group of healthy individuals including 55 homozygotes and 180 heterozygotes |