| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | SRD5A3, SRD5A3-AS1 (V304A) | Single nucleotide variant (missense variant) | SRD5A3-congenital disorder of glycosylation +1 more | |
| | SRD5A3, SRD5A3-AS1 (F318fs) | Deletion (frameshift variant) | SRD5A3-congenital disorder of glycosylation +6 more | |
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