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Gene Mutations
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| Records Return:
(4)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| GLB1 | 611458 | 230500 | 3p22.3 | ARG201CYS | 0003 | GM1-GANGLIOSIDOSIS, LATE-INFANTILE/JUVENILE TYPE | 1 |
| GLB1 | 611458 | 253010 | 3p22.3 | ARG482HIS | 0010 | MUCOPOLYSACCHARIDOSIS TYPE IVB | 2 |
| GLB1 | 611458 | 253010 | 3p22.3 | TRP273LEU | 0009 | MUCOPOLYSACCHARIDOSIS, TYPE IVB | 3 |
| GLB1 | 611458 | 253010 | 3p22.3 | TRP509CYS | 0011 | MUCOPOLYSACCHARIDOSIS TYPE IVB | 1 |
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