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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 |
| MCOLN1 | 605248 | 252650 | 19p13.3-p13.2 | 6,450-BP DEL | 0002 | MUCOLIPIDOSIS IV | 4 |
| MCOLN1 | 605248 | 252650 | 19p13.3-p13.2 | IVS3AS,A>G,-2 | 0001 | MUCOLIPIDOSIS IV | 5 |
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