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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 |
| MAN2B1 | 609458 | 248500 | 19cen-q12 | ARG750TRP | 0004 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | 2 |
| MAN2B1 | 609458 | 248500 | 19cen-q12 | GLN639TER | 0003 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | 1 |
| MAN2B1 | 609458 | 248500 | 19cen-q12 | HIS71LEU | 0001 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | 3 |
| MAN2B1 | 609458 | 248500 | 19cen-q12 | PRO356ARG | 0005 | MANNOSIDOSIS, ALPHA B, LYSOSOMAL | 1 |
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