C0342471[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664185	NM_000198.4(HSD3B2):c.240C>A (p.His80Gln)	HSD3B2 (H80Q)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance
Select item 2585542	NM_000198.4(HSD3B2):c.471C>G (p.Ser157Arg)	HSD3B2 (S157R)	Single nucleotide variant (missense variant)	3 beta-Hydroxysteroid dehydrogenase deficiency	GUncertain significance