| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001146274.1:c.450+33966C>T | 223 | 0.4223 | ||
| NM_001363894.1:c.46-23525T>A | 225 | 0.399 | ||
| NM_017774.3:c.371+11426A>C | 155 | 0.294 | ||
| NM_000525.3:c.67A= | 140 | 0.265 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.33.2 | United Arab Emirates | 153 healthy subjects (109 females, 44 males) |