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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| ADAMTSL2 | 612277 | 231050 | 9q34.2 | c.182G>A (p.R61H) | | Geleophysic Dysplasia | 1 |
| ADAMTSL2 | 612277 | 231050 | 9q34.2 | c.493G>A (p.Ala165Thr) | | Geleophysic Dysplasia | 1 |
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