ClinVar Miner

List of variants in gene HSD3B2, LOC109029530 studied for adrenogenital syndrome

Included ClinVar conditions (12):

3 beta-Hydroxysteroid dehydrogenase deficiency
46,XY sex reversal 8
Cholesterol monooxygenase (side-chain cleaving) deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Congenital adrenal hyperplasia
Cortisone reductase deficiency 1
Cortisone reductase deficiency 2
Deficiency of steroid 11-beta-monooxygenase
Deficiency of steroid 11-beta-monooxygenase; Hyperaldosteronism, familial, type I
Deficiency of steroid 17-alpha-monooxygenase
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
Glucocorticoid resistance, generalized

Minimum submission review status:		Collection method:
Minimum conflict level:
Gene type:		Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 1

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HGVS	dbSNP
NM_001166120.1(HSD3B2):c.-90+57G>A	rs35226381

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