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Gene Mutations
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| Records Return:
(1)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SYNGAP1 | 603384 | 612621 | 6p21.32 | c.3718C>T (p.R1240X) | | MENTAL RETARDATION, AUTOSOMAL DOMINANT 5; MRD5 | 2 |
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