| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001146274.1:c.450+31658A>T | 0.4146 | |||
| NM_001146274.1:c.552+9017G>T | 0.3944 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.20.2 | United Arab Emirates | 686 control subjects |