| | HBB, LOC106099062 +1 more (H93Q) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB | |
| | | Single nucleotide variant (3 prime UTR variant) | Malaria, susceptibility to +10 more | |
| | | Single nucleotide variant (intron variant) | Malaria, susceptibility to +9 more | |
| | LOC107133510, HBB +1 more (H78fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +1 more | |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (synonymous variant) | not provided +10 more | |
| | | Single nucleotide variant | Dominant beta-thalassemia +9 more | |
| | HBB, LOC106099062 +1 more (G57S) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant | Dominant beta-thalassemia +10 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified +10 more | |
| | LOC106099062, LOC107133510 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN JAMAICA PLAIN | |
| | LOC107133510, HBB +1 more (E91K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (CAMEROON) | |
| | LOC107133510, LOC106099062 +2 more (V12I +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN O (TIBESTI) | |
| | LOC110006319, LOC107133510 +2 more (E122Q +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN T (CAMBODIA) | |
| | LOC106099062, LOC107133510 +2 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (TRAVIS) | |
| | HBB, LOC106099062 +1 more (K83N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (PROVIDENCE) | |
| | HBB, LOC107133510 +2 more (E122K +1 more) | Single nucleotide variant (missense variant) | Sickle cell-Hemoglobin O Arab disease | |
| | LOC106099062, LOC107133510 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN S (ANTILLES) | |
| | LOC106099062, LOC107133510 +1 more (E7V +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | LOC107133510, HBB +1 more (D74N +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ZIGUINCHOR | |
| | LOC106099062, LOC107133510 +1 more (E7K +1 more) | Single nucleotide variant (missense variant) | HEMOGLOBIN ARLINGTON PARK | |
| | | Duplication (frameshift variant +1 more) | Beta-thalassemia HBB/LCRB +2 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (R41S) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +9 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +14 more | |
| | | Single nucleotide variant (intron variant) | HBB-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (M1T) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (S10fs) | Duplication (frameshift variant) | Beta-thalassemia HBB/LCRB +12 more | GConflicting classifications of pathogenicity |
| | HBB, LOC106099062 +1 more (G84fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +2 more | |
| | HBB, LOC106099062 +1 more (V68fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (L69F) | Single nucleotide variant (missense variant) | not provided +9 more | GPathogenic/Likely pathogenic |
| | HBB, LOC107133510 +1 more (T124N) | Single nucleotide variant (missense variant) | Methemoglobinemia, beta-globin type +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +3 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (T88P) | Single nucleotide variant (missense variant) | not specified +10 more | |
| | LOC106099062, LOC107133510 +1 more | Single nucleotide variant | not provided +10 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant | Beta-thalassemia HBB/LCRB +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +10 more | GPathogenic/Likely pathogenic |
| | LOC107133510, LOC110006319 +1 more | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | LOC106099062, LOC107133510 +1 more | Single nucleotide variant (intron variant) | Inborn genetic diseases +13 more | |
| | | Deletion (splice acceptor variant) | Beta-thalassemia HBB/LCRB +4 more | |
| | LOC106099062, LOC107133510 +2 more | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +12 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | HBB, LOC106099062 +1 more (W38fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | HBB, LOC106099062 +1 more (P6fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +11 more | |
| | HBB, LOC106099062 +1 more (E7fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (F42fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (F46fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +10 more | GPathogenic/Likely pathogenic |
| | LOC106099062, LOC107133510 +1 more (K18fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | HBB, LOC106099062 +1 more (K9fs) | Deletion (frameshift variant) | Beta-thalassemia HBB/LCRB +4 more | |
| | HBB, LOC106099062 +1 more (K62*) | Single nucleotide variant (nonsense) | not provided +10 more | |
| | HBB, LOC106099062 +1 more (W16*) | Single nucleotide variant (nonsense) | Beta-thalassemia HBB/LCRB +3 more | |
| | HBB, LOC106099062 +1 more (Q40*) | Single nucleotide variant (nonsense) | not provided +12 more | |
| | HBB, LOC106099062 +1 more (K18*) | Single nucleotide variant (nonsense) | Beta-thalassemia HBB/LCRB +10 more | |
| | HBB, LOC106099062 +1 more (R31S) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +2 more | |
| | HBB, LOC106099062 +1 more (L89P) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +1 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (L15P) | Single nucleotide variant (missense variant) | not provided +10 more | |
| | LOC106099062, LOC107133510 +1 more (E7V) | Single nucleotide variant (missense variant) | not provided +16 more | |
| | LOC106099062, LOC107133510 +1 more (V21M) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +9 more | |
| | HBB, LOC107133510 +1 more (E122K) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +11 more | GPathogenic/Likely pathogenic |
| | HBB, LOC106099062 +1 more (R31T) | Single nucleotide variant (missense variant) | not provided +4 more | |
| | HBB, LOC107133510 +1 more (G137D) | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | LOC107133510, LOC106099062 +1 more (V12I) | Single nucleotide variant (missense variant) | Beta-thalassemia HBB/LCRB +13 more | |
| | HBB, LOC106099062 +1 more (E27K) | Single nucleotide variant (missense variant) | Inborn genetic diseases +15 more | |
| | HBB, LOC106099062 +1 more (E23V) | Single nucleotide variant (missense variant) | not provided +9 more | |
| | LOC106099062, LOC107133510 +1 more (E7K) | Single nucleotide variant (missense variant) | HBB-related condition +16 more | |