Variants
HBB variants
Predicted effect: Splice site or region. The one HBB variant of the 11 with a page here. Its page describes ClinVar's public record of the variant, never a result.
| Variant | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|
| c.92+5G>CIVS1-5G>C | Intron 1 | 5,226,925 | Pathogenic | 3 stars out of 4 reviewed by expert panel |