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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SRD5A2
(H232R)
Single nucleotide variant
(missense variant)
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
GPathogenic
SRD5A2
(Q126R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic