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Gene Mutations
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| Records Return:
(10)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| HEXA | 606869 | 272800 | 15q23-q24 | 436delG | | TAY-SACHS DISEASE | 1 |
| HEXA | 606869 | 272800 | 15q23-q24 | ARG247TRP | 0035 | BETA-HEXOSAMINIDASE A, PSEUDODEFICIENCY OF | 2 |
| HEXA | 606869 | 272800 | 15q23-q24 | c.1073+1 G>A (IVS9+1 G>A) | 0033 | TAY-SACHS DISEASE | 1 |
| HEXA | 606869 | 272800 | 15q23-q24 | c.1274_1277dupTATC | 0001 | TAY-SACHS DISEASE | 15 |
| HEXA | 606869 | 272800 | 15q23-q24 | GLU482LYS | 0004 | TAY-SACHS DISEASE | 1 |
| HEXA | 606869 | 272800 | 15q23-q24 | GLY269SER | 0008 | GM2-GANGLIOSIDOSIS, ADULT ONSET | 5 |
| HEXA | 606869 | 272800 | 15q23-q24 | IVS11+1G>C | | TAY-SACHS DISEASE | 1 |
| HEXA | 606869 | 272800 | 15q23-q24 | IVS12DS, G>C, +1 | 0002 | TAY-SACHS DISEASE | 4 |
| HEXA | 606869 | 272800 | 15q23-q24 | TRP392TER | 0050 | TAY-SACHS DISEASE | 1 |
| HEXA | 606869 | 272800 | 15q23-q24 | TRP420CYS | 0012 | TAY-SACHS DISEASE | 1 |
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