Variants
SLC9A6 variants
The 3 SLC9A6 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. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| c.370-13_370-9del | Intron 3 | 135,998,094 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.448-1G>A | Intron 4 | 135,998,481 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| Q306X | c.916C>T | Exon 9 | 136,012,979 | Pathogenic | 3 stars out of 4 reviewed by expert panel |