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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 |
| LDLR | 606945 | 143890 | 19p13.2-p13.1 | CYS646TYR | 0015 | HYPERCHOLESTEROLEMIA, FAMILIAL | 2 |
| LDLR | 606945 | 143890 | 19p13.2-p13.1 | GLY197DEL | 0005 | HYPERCHOLESTEROLEMIA, FAMILIAL | 2 |
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