Summary of known OTOF gene mutations in subjects with NSSNHL
| OTOF mutation | Location in short isoform | Type | Location in long isoform | Revised name of sequence variant | Reference |
| IVS8−2A→G | N/A | Splice site | Intron 8 | N/A | 6 |
| R237X | N/A | Nonsense | Exon 8 | N/A | This study |
| IVS5+1G→A | Intron 5 | Splice site | Intron 24 | IVS24+1G→A | 5 |
| Y730X | Exon 18 | Nonsense | Exon 37 | Y1497X | 4 |
N/A = not applicable.