| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000401.3:c.1762-500G>C | 405 | 0.184 | ||
| NM_000401.3:c.1906-51T>C | 432 | 0.217 | ||
| NM_000401.3:c.2035-41T>C | 403 | 0.203 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.19.2 | Lebanon | 1076 control subjects |