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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| IDUA | 252800 | 607015 | 4p16.3 | ALA75THR | | HURLER-SCHEIE SYNDROME | 1 |
| IDUA | 252800 | 607014 | 4p16.3 | GLY409ARG AND TER654CYS | 0005 | HURLER SYNDROME | 3 |
| IDUA | 252800 | 607016 | 4p16.3 | IVS5AS, G>A, -7 | 0004 | SCHEIE SYNDROME | 3 |
| IDUA | 252800 | 607015 | 4p16.3 | LEU490PRO | 0012 | HURLER/SCHEIE SYNDROME | 1 |
| IDUA | 252800 | 607015 | 4p16.3 | PRO496LEU | | HURLER-SCHEIE SYNDROME | 1 |
| IDUA | 252800 | 607014 | 4p16.3 | TRP402TER | 0001 | HURLER SYNDROME | 6 |
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