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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ESCO2 | 609353 | 268300 | 8p21.1 | 307_311delAGAAA | | ROBERTS SYNDROME | 1 |
| ESCO2 | 609353 | 268300 | 8p21.1 | 752delA | 0007 | ROBERTS SYNDROME | 3 |
| ESCO2 | 609353 | 268300 | 8p21.1 | GLN202TER | | ROBERTS SYNDROME | 2 |
| ESCO2 | 609353 | 268300 | 8p21.1 | IVS6-7A>G | | ROBERTS SYNDROME | 1 |
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