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 |