| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001033855.3:c.247-3T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 602450.1.1 | Lebanon | Parent of child with T-B-NK+ SCID. Affected child did not carry the mutation detected in this parent |