Unknown
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000527.5:c.761A>C | ||||
| NM_000527.5:c.1066G>T | ||||
| NM_000527.5:c.1073G>A | ||||
| NM_000527.5:c.1329G>A | ||||
| NM_000527.5:c.2476C>T | ||||
| NM_000527.5:c.1352T>G |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 143890.G.4.1 | Lebanon | Hypercholesterolemia; Increased LDL cholesterol concentration | Unknown | Mutations identified in a group of 44 unrelated probands and 7 relatives of the probands |