| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_006172.4:c.450+478_450+485dup | 48 | 0.25 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 192600.G.1.2 | United Arab Emirates | 55 control subjects |