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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 |
| SMN1 | 600354 | 253300 | 5q12.2-q13.3 | EX7-8DEL | | SPINAL MUSCULAR ATROPHY, TYPE I | 8 |
| SMN1 | 600354 | 253300 | 5q12.2-q13.3 | EX7DEL | | SPINAL MUSCULAR ATROPHY | 1 |
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