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Gene Mutations
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| Records Return:
(6)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| SGSH | 605270 | 252900 | 17q25.3 | 1-BP DEL, 1091C | 0004 | SANFILIPPO SYNDROME A | 1 |
| SGSH | 605270 | 252900 | 17q25.3 | 9-BP DEL, NT1307 | 0007 | SANFILIPPO SYNDROME A | 1 |
| SGSH | 605270 | 252900 | 17q25.3 | ARG245HIS | 0001 | SANFILIPPO SYNDROME A | 3 |
| SGSH | 605270 | 252900 | 17q25.3 | GLU447LYS | 0006 | SANFILIPPO SYNDROME A | 1 |
| SGSH | 605270 | 252900 | 17q25.3 | SER66TRP | 0003 | SANFILIPPO SYNDROME A | 2 |
| SGSH | 605270 | 252900 | 17q25.3 | VAL131MET | | SANFILIPPO SYNDROME A | 1 |
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