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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 |
| COL2A1 | 120140 | 108300 | 12q13.11-q13.2 | 3892delT | | Stickler Syndrome | 2 |
| COL2A1 | 120140 | 200610 | 12q13.11-q13.2 | c.2680-2A>G | | ACHONDROGENESIS, TYPE II; ACG2 | 1 |
| COL2A1 | 120140 | 271700 | 12q13.11-q13.2 | c.4337dupG (p.Lys1447Cysfs*18) | | SPONDYLOPERIPHERAL DYSPLASIA | 1 |
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