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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 |
| RMRP | 157660 | 250250 | 9p21-p12 | -25_-5 DUP | | CARTILAGE-HAIR HYPOPLASIA | 1 |
| RMRP | 157660 | 250250 | 9p21-p12 | 146G>A | | CARTILAGE-HAIR HYPOPLASIA | 1 |
| RMRP | 157660 | 250250 | 9p21-p12 | 70A>G | 0001 | CARTILAGE-HAIR HYPOPLASIA | 4 |
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