List of variants in gene HSD3B2 reported as likely benign for adrenocortical insufficiency

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000198.4(HSD3B2):c.960A>C (p.Thr320=)	rs34412477	0.00047
NM_000198.4(HSD3B2):c.1062G>A (p.Glu354=)	rs114064941	0.00041
NM_000198.4(HSD3B2):c.613C>T (p.Leu205=)	rs138811555	0.00036
NM_000198.4(HSD3B2):c.222C>T (p.Asp74=)	rs150892928	0.00035
NM_000198.4(HSD3B2):c.631C>T (p.Leu211=)	rs143038843	0.00016
NM_000198.4(HSD3B2):c.308-8G>A	rs371712928	0.00013
NM_000198.4(HSD3B2):c.423C>T (p.His141=)	rs751470493	0.00011
NM_000198.4(HSD3B2):c.681C>T (p.Asn227=)	rs587675471	0.00011
NM_000198.4(HSD3B2):c.549G>A (p.Ala183=)	rs33932258	0.00008
NM_000198.4(HSD3B2):c.750T>C (p.Gly250=)	rs755461071	0.00007
NM_000198.4(HSD3B2):c.714T>C (p.Ala238=)	rs745608432	0.00006
NM_000198.4(HSD3B2):c.143-7C>T	rs200483303	0.00005
NM_000198.4(HSD3B2):c.246C>T (p.Ala82=)	rs587717286	0.00005
NM_000198.4(HSD3B2):c.258T>C (p.Asp86=)	rs996323669	0.00002
NM_000198.4(HSD3B2):c.228G>A (p.Ser76=)	rs767147330	0.00001
NM_000198.4(HSD3B2):c.411C>A (p.Ile137=)	rs374909270	0.00001
NM_000198.4(HSD3B2):c.746G>A (p.Arg249Gln)	rs751984843	0.00001
NM_000198.4(HSD3B2):c.924C>T (p.Tyr308=)	rs587775183	0.00001
NM_000198.4(HSD3B2):c.1014G>A (p.Ala338=)	rs116342586
NM_000198.4(HSD3B2):c.1056C>G (p.Thr352=)	rs781770416
NM_000198.4(HSD3B2):c.465G>A (p.Pro155=)	rs114527791
NM_000198.4(HSD3B2):c.624T>C (p.Asn208=)	rs1040579140
NM_000198.4(HSD3B2):c.867G>C (p.Leu289=)	rs1292390178

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.