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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 |
| G6PC | 613742 | 232200 | 17q21 | ARG83CYS | 0002 | GLYCOGEN STORAGE DISEASE Ia | 2 |
| G6PC | 613742 | 232200 | 17q21 | GLN347TER | 0004 | GLYCOGEN STORAGE DISEASE Ia | 5 |
| G6PC | 613742 | 232200 | 17q21 | Gly222Arg | | GLYCOGEN STORAGE DISEASE Ia; GSD1A | 1 |
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