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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 |
| USH1C | 605242 | 276904 | 11p15.1 | 216G>A | 0004 | USHER SYNDROME, TYPE 1C | 6 |
| USH1C | 605242 | 276904 | 11p15.1 | 238_239insC (R80fs) | 0002 | USHER SYNDROME, TYPE 1C | 1 |
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