Variants
SLC26A4 variants
The 14 SLC26A4 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.919-2A>GIVS7-2A>G | 107,683,453 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| C282Y | c.845G>A | 107,683,281 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| C565Y | c.1694G>A | 107,700,162 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| F335L | c.1003T>C | 107,689,054 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| I124Yfs*58 | c.365dup | 107,672,192 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| I655V | c.1963A>G | 107,701,986 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| K715N | c.2145G>T | 107,710,109 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| L117F | c.349C>T | 107,672,182 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| L236V | c.706C>G | 107,675,050 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| R185T | c.554G>C | 107,674,302 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |
| T410M | c.1229C>T | 107,690,203 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V138F | c.412G>T | 107,672,245 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V402M | c.1204G>A | 107,690,178 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| V570I | c.1708G>A | 107,701,101 | Likely pathogenic | 3 stars out of 4 reviewed by expert panel |