The table below lists the 1 rare (MAF<0.0001 in ExAC) protein-altering MYL2 variants identified in a cohort of 543 DCM patients (355 patients from OMGL, 188 patients from LMM). When this rare variant frequency of 0.00184 is compared with a background population rate of 0.00176, there is a case excess of 0.00008, although this is not statistically significant for protein-altering MYL2 variants in DCM (p=0.5724).
| No. | Variant (CDS)▼ | Variant (Protein) | Variant Type▼ | Cases (543)▼ | OMGL class | LMM class | ExAC frequency |
|---|---|---|---|---|---|---|---|
| 1. | c.31G>A | p.G11R | missense | 1 | VUS (1) | 0.000016 |
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