| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000243.3:c.2177T>C | 20% |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 249100.G.6.1 | Lebanon | Abdominal pain; Arthritis; Amyloidosis | Group of unrelated Lebanese patients | |||
| 249100.G.6.3 | Lebanon | Abdominal pain; Arthritis; Amyloidosis | Group of unrelated Lebanese patients | |||
| 249100.G.6.4 | Lebanon | Abdominal pain; Arthritis | Group of unrelated Lebanese patients |