| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000441.1:c.-66C>G | 6 | |||
| NM_000441.2:c.1826T>G | 3 | |||
| NM_000441.2:c.2130C>T | 2 | |||
| NM_000441.2:c.2218G>A | 2 | |||
| NM_000441.2:c.1061T>C | 1 | |||
| NM_000441.1:c.1002-9A>C | 1 | |||
| NM_000441.2:c.2272_2273insCTT | 1 | |||
| NM_000441.2:c.1265T>C | 1 | |||
| NM_000441.2:c.1790T>C | 1 | |||
| NM_000441.2:c.1488C>T | 1 | |||
| NM_000441.2:c.849G>C | 1 |