The table below lists the 3 rare (MAF<0.0001 in ExAC) protein-altering DES variants identified in a cohort of 304 DCM patients. When this rare variant frequency of 0.00987 is compared with a background population rate of 0.00472, there is a case excess of 0.00515, although this is not statistically significant for protein-altering DES variants in DCM (p=0.0806).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (304)▼ | OMGL class | ExAC frequency |
|---|---|---|---|---|---|---|
| 1. | c.1019G>A | p.G340D | missense | 1 | VUS | 0.000000 |
| 2. | c.449G>C | p.R150P | missense | 1 | VUS | 0.000000 |
| 3. | c.832C>T | p.R278W | missense | 1 | VUS | 0.000000 |
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