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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| FXN | 606829 | 229300 | 9q13-q21.1 | (GAA)n EXPANSION | 0001 | FRIEDREICH ATAXIA | 53 |
| FXN | 606829 | 229300 | 9q13-q21.1 | GLY130VAL | 0005 | FRIEDREICH ATAXIA | 1 |
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