List of variants in gene CYP1B1 reported as likely pathogenic for Glaucoma 3A

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)	rs79204362	0.00125
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser)	rs768047511	0.00002
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	rs777678299	0.00001
NM_000104.4(CYP1B1):c.1044-2A>G	rs1389588817
NM_000104.4(CYP1B1):c.1064G>C (p.Arg355Pro)
NM_000104.4(CYP1B1):c.1081G>T (p.Asp361Tyr)	rs906925939
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn)	rs104893622
NM_000104.4(CYP1B1):c.349C>T (p.Arg117Trp)	rs944452644
NM_000104.4(CYP1B1):c.350G>A (p.Arg117Gln)	rs1450783755
NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)	rs2125316074
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	rs766425037
NM_000104.4(CYP1B1):c.975_978del (p.Asp326fs)	rs1573274915

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.