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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 |
| MTHFR | 607093 | 607093 | 1p36.3 | 1298A>C | 0004 | MTHFR THERMOLABILE POLYMORPHISM | 4 |
| MTHFR | 607093 | 607093 | 1p36.3 | 677C>T | 0003 | MTHFR THERMOLABILE POLYMORPHISM | 11 |
| MTHFR | 607093 | 236250 | 1p36.3 | c.1748G>A (p.Trp583*) | | HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY | 1 |
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