| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000372.5:c.149C>A | ||||
| NM_000372.5:c.255T>G | ||||
| NM_000372.5:c.766C>T | ||||
| NM_000372.4:c.814T>C | ||||
| NM_000372.5:c.896G>A | ||||
| NM_000372.5:c.1037G>A | ||||
| NM_000372.5:c.1076A>T | ||||
| NM_000372.5:c.1078A>G | ||||
| NM_000372.4:c.1207del | ||||
| NM_000372.5:c.1204C>T | ||||
| NM_000372.5:c.1298A>G | ||||
| NM_000372.5:c.1342G>A |