| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SRD5A3, SRD5A3-AS1 (W201*) | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of glycosylation | |
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