Prevalence of rare variants (minor allele frequency ≤0.2%) in the eight main sarcomere genes
| Gene | Number of cases | Percentage of sarcomere-positive individuals (N=383) | Percentage of the total cohort (N=874) |
|---|---|---|---|
| ACTC1 | 3 | 0.8 | 0.3 |
| MYBPC3 | 191 | 49.9 | 21.9 |
| MYH7 | 99 | 25.9 | 11.3 |
| MYL2 | 6 | 1.6 | 0.7 |
| MYL3 | 4 | 1.0 | 0.5 |
| TNNI3 | 15 | 3.9 | 1.7 |
| TNNT2 | 20 | 5.2 | 2.3 |
| TPM1 | 8 | 2.1 | 0.9 |
| Multiple | 37 | 9.7 | 4.2 |
| Total | 383 | 100 | 43.8 |
The number and proportion of individuals for each individual gene excludes patients carrying more than one variant who are grouped under ‘multiple’.