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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| NF1 | 162200 | 162200 | 17q11.2 | 1-BP DEL, EX 28 | | NEUROFIBROMATOSIS, TYPE I | 1 |
| NF1 | 162200 | 162200 | 17q11.2 | ALU INS | 0001 | NEUROFIBROMATOSIS, TYPE I | 1 |
| NF1 | 162200 | 162200 | 17q11.2 | c.1183insT (p.395X) | | NEUROFIBROMATOSIS, TYPE I; NF1 | 1 |
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