Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000376.3:c.1056T>C | 197 | NA | ||
NM_000376.2:c.1024+283G>A | 78 | NA |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
125853.G.43.2 | United Arab Emirates | Control group comprising 90 subjects (68 females and 23 males). |