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Gene Mutations
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| Records Return:
(14)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| HBB | 141900 | 141900 | 11p15.5 | -87C>G | 0374 | BETA-PLUS-THALASSEMIA | 1 |
| HBB | 141900 | 141900 | 11p15.5 | 1-BP INS, A, BETWEEN CODONS 71 AND 72 | | BETA-ZERO-THALASSEMIA | 1 |
| HBB | 141900 | 613985 | 11p15.5 | GLN39TER | 0312 | BETA-ZERO-THALASSEMIA | 3 |
| HBB | 141900 | 141900 | 11p15.5 | GLU101ASP | 0225 | HEMOGLOBIN POTOMAC | 1 |
| HBB | 141900 | 141900 | 11p15.5 | GLU26LYS (GLU27LYS; c.79G>A) | 0071 | HEMOGLOBIN E | 3 |
| HBB | 141900 | 141900 | 11p15.5 | GLU6LYS | 0038 | HEMOGLOBIN C | 1 |
| HBB | 141900 | 141900 | 11p15.5 | GLU6VAL | 0243 | HEMOGLOBIN S | 4 |
| HBB | 141900 | 141900 | 11p15.5 | IVS1, G>A, +1 | 0346 | BETA-ZERO-THALASSEMIA | 1 |
| HBB | 141900 | 141900 | 11p15.5 | IVS1, G>A, +110 | 0364 | BETA-PLUS-THALASSEMIA | 3 |
| HBB | 141900 | 141900 | 11p15.5 | IVS1, T>C, +6 | 0360 | BETA-PLUS-THALASSEMIA | 2 |
| HBB | 141900 | 141900 | 11p15.5 | IVS2, C>G, +745 | 0367 | BETA-PLUS-THALASSEMIA | 1 |
| HBB | 141900 | 141900 | 11p15.5 | IVS2, C>T, +654 | 0368 | BETA-ZERO-THALASSEMIA | 1 |
| HBB | 141900 | 141900 | 11p15.5 | IVS2, G>A, +1 | 0348 | BETA-ZERO-THALASSEMIA | 2 |
| HBB | 141900 | 141900 | 11p15.5 | LYS83ASN (c.249G>C) | 0227 | HEMOGLOBIN PROVIDENCE | 6 |
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