Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000492.3:c.1210-12= | 3 | |||
| NM_000492.4:c.1210-7_1210-6del | 3 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 277180.G.2.1 | Egypt | Absent vas deferens | Male | 5 patients with CBAVD | ||
| 277180.G.2.2 | Egypt | Absent vas deferens; Abnormality of the kidney | Male | 3 patients with CBAVD and renal anomalies | ||
| 277180.G.2.3 | Egypt | Absent vas deferens | Male | 5 patients with CBAVD |