| Disease associated variation - ClinVar |
| Allele ID | Type | Name | RS#dbSNP | Phenotype IDs | Chromosome | Start | Stop | Reference | Alternate |
|---|
| 152776 | single nucleotide variant | NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu) | 587777599 | MedGen:CN207510,OMIM:615922 | 9 | 116050463 | 116050463 | C | T |
| 152776 | single nucleotide variant | NM_004697.4(PRPF4):c.944C>T (p.Pro315Leu) | 587777599 | MedGen:CN207510,OMIM:615922 | 9 | 113288183 | 113288183 | C | T |
| 152777 | deletion | NM_004697.4(PRPF4):c.-114_-97del18 | 541873609 | MedGen:CN207510,OMIM:615922 | 9 | 116037910 | 116037927 | na | na |
| 152777 | deletion | NM_004697.4(PRPF4):c.-114_-97del18 | 541873609 | MedGen:CN207510,OMIM:615922 | 9 | 113275630 | 113275647 | na | na |