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Gene Mutations
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| Records Return:
(5)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ERCC3 | 133510 | 133510 | 2q21 | 1421_1422insA | | XERODERMA PIGMENTOSUM, TYPE B | 1 |
| ERCC3 | 133510 | 133510 | 2q21 | ARG425TER | | XERODERMA PIGMENTOSUM, TYPE B | 3 |
| ERCC3 | 133510 | 133510 | 2q21 | GLN545TER | | XERODERMA PIGMENTOSUM, TYPE B | 1 |
| ERCC3 | 133510 | 133510 | 2q21 | PHE99SER | 0002 | XERODERMA PIGMENTOSUM, TYPE B | 7 |
| ERCC3 | 133510 | 133510 | 2q21 | SPLICE ACCEPTOR C>A, FS | 0001 | XERODERMA PIGMENTOSUM, TYPE B | 6 |
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