| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | SPINT1, LOC130056873 (P37L) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC130056873, SPINT1 (P42S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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