Variants
DES variants
Predicted effect: Frameshift. The one DES variant of the 26 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| T76Pfs*22 | c.226del | Exon 1 | 219,418,687 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |