| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000404.4:c.914+4A>G | 12 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 230500.G.1 | Palestine | 3 patients from an Emirati family | ||||
| 230500.G.2 | Palestine | 7 patients from an Emirati family |