| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC129934933, PRPF40A (G19V +2 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129934933, PRPF40A (R72W +1 more) | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | LOC129934933, PRPF40A (R71G +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129934933, PRPF40A (S5R +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | LOC129934933, PRPF40A (G6S +1 more) | Single nucleotide variant (missense variant +1 more) | not specified | |
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