Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_138691.2:c.100C>T | 10 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 600974.7 | United Arab Emirates | Hearing impairment | Yes | Yes | At least 2 affected families with the same mutation |