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Gene Mutations
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| Records Return:
(3)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| DDB2 | 600811 | 278740 | 11p12-p11 | ARG273HIS | 0002 | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E, SUBTYPE 2 | 1 |
| DDB2 | 600811 | 278740 | 11p12-p11 | ASN349del | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 1 |
| DDB2 | 600811 | 278740 | 11p12-p11 | LEU350PRO | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 1 |
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