Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_000376.3:c.1056T>C | 0.62 | |||
NM_000376.2:c.1024+283G>A | 0.0.42 | |||
NM_000376.3:c.1025-49G>T | 0.63 | |||
NM_000102.4:c.-34T>C | 0.43 | |||
NM_000376.3:c.2T>G | 0.68 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
600082.G.1.2 | Lebanon | 79 Lebanese controls |