Variants
HFE variants
The 4 HFE 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.1006+1G>A | Intron 5 | 26,093,233 | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | |
| C282Y | c.845G>A | Exon 4 | 26,092,913 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| L183Gfs*60 | c.546_547del | Exon 3 | 26,091,518 | Likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |
| R71X | c.211C>T | Exon 2 | 26,090,975 | Pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts |