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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 |
| GJB2 | 121011 | 220290 | 13q11-q12 | 1-BP DEL, 35G | 0005 | DEAFNESS, AUTOSOMAL RECESSIVE, 1; DFNB1 | 5 |
| GJB2 | 121011 | 220290 | 13q11-q12 | GLU120DEL | | | 1 |
| GJB2 | 121011 | 220290 | 13q11-q12 | GLY4ASP | | | 1 |
| GJB2 | 121011 | 220290 | 13q11-q12 | MET195ILE | | | 1 |
| GJB2 | 121011 | 601544 | 13q11-q12 | MET34THR | 0001 | GAP JUNCTION PROTEIN, BETA-2; GJB2 | 3 |
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