List of variants in gene CYP11B1 reported as pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000497.4(CYP11B1):c.124C>T (p.Pro42Ser)	rs104894069	0.00001
CYP11B1, CYP11B1/CYP11B2 CHIMERA
NM_000497.4(CYP11B1):c.199del (p.Glu67fs)	rs780398462
NM_000497.4(CYP11B1):c.217C>T (p.Gln73Ter)	rs1554653675
NM_000497.4(CYP11B1):c.281C>T (p.Pro94Leu)	rs104894070
NM_000497.4(CYP11B1):c.317_344del (p.Leu106fs)	rs764418169
NM_000497.4(CYP11B1):c.347G>A (p.Trp116Ter)	rs104894066
NM_000497.4(CYP11B1):c.359_363dup (p.His122fs)
NM_000497.4(CYP11B1):c.372del (p.His125fs)	rs1554653520
NM_000497.4(CYP11B1):c.381_382dup (p.Gly128fs)
NM_000497.4(CYP11B1):c.760_776delinsGG (p.Lys254_Ala259delinsGly)

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.