The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering TAZ variants identified in a cohort of 740 DCM patients. When this rare variant frequency of 0.00405 is compared with a background population rate of 0.00094, there is a case excess of 0.00311, although this is not statistically significant for protein-altering TAZ variants in DCM (p=0.0360).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (740)▼ | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.208C>T | p.Q70X | nonsense | 1 | Likely Pathogenic | 0.000000 |
| 2. | c.718G>C | p.G240R | missense | 1 | Pathogenic | 0.000000 |
| 3. | c.752G>T | p.R251L | missense | 1 | VUS | 0.000000 |
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