Variants
HBB variants
The 11 HBB variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A28S | c.82G>T | Exon 1 | 5,226,940 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| c.*111A>GAATGAA | Exon 3 | 5,225,487 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.92+5G>CIVS1-5G>C | Intron 1 | 5,226,925 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.93-21G>AIVS1-110G>A | Intron 1 | 5,226,820 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316-106C>GIVS2-745C>G | Intron 2 | 5,225,832 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316-146T>G | Intron 2 | 5,225,872 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| c.316-197C>TIVS2-654C>T | Intron 2 | 5,225,923 | Pathogenic | 3 stars out of 4 reviewed by expert panel | |
| K18X | c.52A>T | Exon 1 | 5,226,970 | Pathogenic | 3 stars out of 4 reviewed by expert panel |
| rs33931746 | 5,227,099 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| rs33941377-87C>G | 5,227,158 | Pathogenic | 3 stars out of 4 reviewed by expert panel | ||
| W38X | c.114G>A | Exon 2 | 5,226,778 | Pathogenic | 3 stars out of 4 reviewed by expert panel |