| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001146274.1:c.450+33966C>T | NA | 0.41 | ||
| NC_000019.10:g.33818627= | NA | 0.29 | ||
| NM_001080432.2:c.46-43098T>C | NA | 0.43 | ||
| NC_000018.10:g.60161902T>C | NA | 0.33 | ||
| NM_002246.3:c.283+12785G>A | NA | 0.216 | ||
| NM_001290216.3:c.-280+4770= | NA | 0.444 | ||
| NG_033123.1:g.3166G>A | NA | 0.359 | ||
| NG_053442.1:g.752= | NA | 0.313 | ||
| NM_015168.1:c.1440+71G>A | NA | 0.361 | ||
| NC_000001.11:g.96476850G>A | NA | 0.449 | ||
| NM_001142615.2:c.-296+16038G>A | NA | 0.303 | ||
| NC_000007.14:g.25833490G>T | NA | 0.226 | ||
| NM_005244.4:c.-11+35205A>G | NA | 0.418 | ||
| NC_000016.10:g.49028679= | NA | 0.3 | ||
| NM_148172.3:c.321-4231C>T | NA | 0.199 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 125853.G.27.2 | United Arab Emirates | Group consisting of 415 control subjects. |