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

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

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000198.3(HSD3B2):c.-145G>A	rs35226381	0.00744
NM_000198.4(HSD3B2):c.35G>A (p.Gly12Glu)	rs756607591	0.00023
NM_000198.4(HSD3B2):c.-106T>C	rs587688647	0.00022
NM_000198.4(HSD3B2):c.124T>C (p.Leu42=)	rs370732845	0.00016
NM_000198.4(HSD3B2):c.13T>A (p.Cys5Ser)	rs376207606	0.00005
NM_000198.4(HSD3B2):c.15C>A (p.Cys5Ter)	rs766474996	0.00002
NM_000198.4(HSD3B2):c.29C>A (p.Ala10Glu)	rs28934880	0.00001
NM_000198.4(HSD3B2):c.127A>G (p.Arg43Gly)
NM_000198.4(HSD3B2):c.131_132del (p.Glu44fs)	rs760846678
NM_000198.4(HSD3B2):c.132G>T (p.Glu44Asp)
NM_000198.4(HSD3B2):c.142+11T>G
NM_000198.4(HSD3B2):c.51G>A (p.Arg17=)	rs757957605
NM_000198.4(HSD3B2):c.55G>A (p.Val19Ile)
NM_000198.4(HSD3B2):c.58C>T (p.Arg20Cys)
NM_000198.4(HSD3B2):c.65dup (p.Leu22fs)	rs1266831898
NM_000198.4(HSD3B2):c.9G>A (p.Trp3Ter)	rs765335418

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.