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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 |
| HPS1 | 604982 | 203300 | 10q23.1 | 16-BP DUP | 0001 | HERMANSKY-PUDLAK SYNDROME | 3 |
| HPS1 | 604982 | 203300 | 10q23.1 | E397delC | | Hermansky-Pudlak syndrome | 1 |
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