Table 1. Panel of assayed HBB genetic variants.
| Mutation namea | HGVS nomenclatureb | Type of hemoglobinopahy |
| Codon 5 (-CT); CCT(Pro)->C- | HBB:c.17_18delCT | beta0 thalassemia |
| Codon 6 (-A); GAG(Glu)->G-G | HBB:c.20delA | beta0 thalassemia |
| beta 6(A3) Glu>Val | HBB:c.20A>T | sickle cell disease |
| Codon 8 (-AA); AAG(Lys)->-G | HBB:c.25_26delAA | beta0 thalassemia |
| IVS-I-1 (G->A) | HBB:c.92+1G>A | beta0 thalassemia |
| IVS-I-6 (T->C) | HBB:c.92+6T>C | beta+ thalassemia |
| IVS-I-110 (G->A) | HBB:c.93−21G>A | beta+ thalassemia |
| Codon 39 (C->T) | HBB:c.118C>T | beta0 thalassemia |
| IVS-II-745 (C->G) | HBB:c.316−106C>G | beta+ thalassemia |