| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000046.5:c.944G>A | 22 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 253200.G.1 | Sudan | Ventilator dependence with inability to wean; Growth delay | 2 Emirati siblings |