| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001199799.1:c.804del | 5 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 609646.G.1.1 | United Arab Emirates | Sensorineural hearing impairment | Female | Yes | Yes | 5 affected siblings |