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Gene Mutations
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| Records Return:
(5)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| GK | 300474 | 307030 | Xp21.3-p21.2 | Deletion between DXS28 & DXS727 | | | 1 |
| GK | 300474 | 307030 | Xp21.3-p21.2 | IVS3 +1 G>A, del exon 3 | | | 1 |
| GK | 300474 | 307030 | Xp21.3-p21.2 | IVS7-2 A>G; Exon 8 | | GLYCEROL KINASE DEFICIENCY; GKD | 1 |
| GK | 300474 | 307030 | Xp21.3-p21.2 | N288D | | Hyperglycerolemia | 1 |
| GK | 300474 | 307030 | Xp21.3-p21.2 | Q438R | | | 1 |
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