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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 |
| DHCR7 | 602858 | 270400 | 11q12-q13 | GLY138VAL | | SMITH-LEMLI-OPITZ SYNDROME | 2 |
| DHCR7 | 602858 | 270400 | 11q12-q13 | HIS405TYR | | SMITH-LEMLI-OPITZ SYNDROME | 2 |
| DHCR7 | 602858 | 270400 | 11q12-q13 | IVS8-1G>C | 0001 | SMITH-LEMLI-OPITZ SYNDROME | 1 |
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