| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126806263, POLR1A (P940L) | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | LOC126806263, POLR1A (P927L) | Single nucleotide variant (missense variant) | not provided +1 more | |
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