| Start | Mutation | Type | Phenotype | Population |
| -88 | -88 (C->A) | SUBSTITUTION | Beta Thalassemia Major | Jewish group... |
| -87 | -87 (C->G) | SUBSTITUTION | Beta Thalassemia Major | North-east A... |
| -87 | -87 (C->G) | SUBSTITUTION | Beta Thalassemia Minor | Patients of ... |
| -87 | -87 (C->T) | SUBSTITUTION | Beta Thalassemia Intermedia | Found in pat... |
| -30 | -30 (T->A) | SUBSTITUTION | Beta Thalassemia Intermedia | Iranian, Tur... |
| -29 | -29 (A->G) | SUBSTITUTION | Beta Thalassemia Minor | Morocco; Sou... |
| -28 | -28 (A->G) | SUBSTITUTION | Beta Thalassemia Major | Chinese in G... |
| -28 | -28 (A->C) | SUBSTITUTION | Beta Thalassemia Major | Jewish group... |
| 33 | +33 (5' UTR) (C->G) | SUBSTITUTION | Beta Thalassemia Minor | Spanish |
| 61 | Codon 3 (T->C) | SUBSTITUTION | Beta Thalassemia Major | Thai |
| 67 | Codon 5 (-CT) | DELETION | Beta Thalassemia Major | Northern Ira |
| 70 | Codon 6 (-A) | DELETION | Beta Thalassemia Major | Sardinian / ... |
| 73 | Codon 7 (+CTAGCAACCTCAAACAGACACCATGGTGCACCTGACTCCTGAGGA) | INSERTION | Beta Thalassemia Major | Polynesian -... |
| 75 | Codon 8 (-AA) | DELETION | Beta Thalassemia Major | northern ira |
| 78 | Codon 9 (+G) | INSERTION | Unclear or unavailable | Asian Indian... |
| 97 | Codon 15 (G->A) | SUBSTITUTION | Beta Thalassemia Major | South India,... |
| 101 | Codon 16 (-C) | DELETION | Unclear or unavailable | Asian Indian |
| 102 | Codon 17 (A->T) | SUBSTITUTION | Beta Thalassemia Major | Common in Th... |
| 129 | Codon 26 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Eastern indi... |
| 132 | Codon 27 (+GCCCCTG) | INSERTION | Beta Thalassemia Major | Taiwan/South... |
| 142 | Codon 30 (G->C) | SUBSTITUTION | Beta Thalassemia Major | Eastern Indi... |
| 143 | IVS I-1 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Greek; Turk |
| 143 | IVS I-1 (G->T) | SUBSTITUTION | Unclear or unavailable | Asian Indian |
| 144 | IVS I-2 (T->A) | SUBSTITUTION | Beta Thalassemia Intermedia | Patients of ... |
| 144 | IVS I-2 (T->C) | SUBSTITUTION | Beta Thalassemia Major | African-Amer... |
| 147 | IVS I-5 (G->C) | SUBSTITUTION | Unclear or unavailable | Eastern Indi... |
| 147 | IVS I-5 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Corfu |
| 148 | IVS I-6 (T->C) | SUBSTITUTION | Beta Thalassemia Major | Greek, Turki... |
| 148 | IVS I-6 (T->C) | SUBSTITUTION | Beta Thalassemia Minor | Common in no... |
| 252 | IVS I-110 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Turkish, Gre... |
| 258 | IVS I-116 (T->G) | SUBSTITUTION | Beta Thalassemia Intermedia | One individu... |
| 270 | IVS I-128 (T->G) | SUBSTITUTION | Beta Thalassemia Intermedia | Iranian, Sau... |
| 271 | IVS I-129 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Turkey |
| 272 | IVS I-130 (G->C) | SUBSTITUTION | Beta Thalassemia Major | Turkish, Ira... |
| 273 | Codon 30 (G->A) | SUBSTITUTION | Beta Thalassemia Major | African-Amer... |
| 277 | Codon 32 (CTG->CAG) | SUBSTITUTION | Beta Thalassemia Major | One 19 month... |
| 284 | Codon 34 (+CCACCCTTAGGCTGCTGGTGGTCCACCCTTAGGCTGCTGGTGGT) | INSERTION | Beta Thalassemia Major | Thai |
| 293 | Codon 37 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Afghanistan;... |
| 298 | Codon 39 (C->T) | SUBSTITUTION | Beta Thalassemia Major | Greek, Turki... |
| 304 | Codon 41 (-TTCT) | DELETION | Beta Thalassemia Major | South Indian |
| 305 | Codon 41 (-TCTT) | DELETION | Beta Thalassemia Major | Chinese in G... |
| 306 | Codon 41 (-TCTT) | DELETION | Beta Thalassemia Major | Asian Indian |
| 310 | Codon 43 (G->T) | SUBSTITUTION | Unclear or unavailable | China/Southe... |
| 397 | Codon 72 (+A) | INSERTION | Beta Thalassemia Major | Chinese in G... |
| 429 | Codon 82 (-G) | DELETION | Beta Thalassemia Major | Iranian |
| 451 | Codon 90 (G->T) | SUBSTITUTION | Beta Thalassemia Minor | Japanese |
| 466 | Codon 95 (A->T) | SUBSTITUTION | Beta Thalassemia Minor | Iranian |
| 475 | Codon 98 (GTG->ATG) | SUBSTITUTION | Beta Thalassemia Major | One 19 month... |
| 496 | IVS II-1 (G->A) | SUBSTITUTION | Beta Thalassemia Major | Northern Ira... |
| 499 | IVS II-4 (-AG) | DELETION | Beta Thalassemia Intermedia | Portugal |
| 1149 | IVS II-654 (C->T) | SUBSTITUTION | Beta Thalassemia Major | Chinese in G... |
| 1200 | IVS II-705 (T->G) | SUBSTITUTION | Unclear or unavailable | Spain |
| 1240 | IVS II-745 (C->G) | SUBSTITUTION | Unclear or unavailable | Greek, Medit... |
| 1339 | IVS II-844 (C->G) | SUBSTITUTION | Beta Thalassemia Intermedia | Patients of ... |
| 1343 | IVS II-848 (C->A) | SUBSTITUTION | Beta Thalassemia Major | Spanish |
| 1345 | IVS II-850 (G->C) | SUBSTITUTION | Beta Thalassemia Major | Yugoslavian |
| 1374 | Codon 114 (T->C) | SUBSTITUTION | Beta Thalassemia Intermedia | Found in wom... |
| 1410 | Codon 126 (-T) | DELETION | Beta Thalassemia Intermedia | Patients of ... |
| 1480 | +1480 (3' UTR) (C->G) | SUBSTITUTION | Beta Thalassemia Intermedia | Greek |
| 1587 | +1587 (3' UTR) (A->G) | SUBSTITUTION | Beta Thalassemia Major | Jewish group... |