Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000067.2:c.232+1G>T | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 259730.3.1 | Saudi Arabia | Osteopetrosis | Male | Yes | Yes | |
| 259730.3.2 | Saudi Arabia | Osteopetrosis | Female | Yes | Yes | Relative of 259730.3.1 |