List of variants in gene CYP1B1 reported as pathogenic by Baylor Genetics

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_000104.4(CYP1B1):c.1064_1076del (p.Arg355fs)	rs72549380	0.00024
NM_000104.4(CYP1B1):c.171G>A (p.Trp57Ter)	rs72549387	0.00022
NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	rs55989760	0.00018
NM_000104.4(CYP1B1):c.182G>A (p.Gly61Glu)	rs28936700	0.00017
NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	rs148542782	0.00013
NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	rs56010818	0.00008
NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	rs72549381	0.00003
NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)	rs72549379	0.00002
NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys)	rs72481807	0.00001
NM_000104.4(CYP1B1):c.55C>T (p.Gln19Ter)	rs72549388	0.00001
NM_000104.4(CYP1B1):c.840C>A (p.Cys280Ter)	rs778202993	0.00001
NM_000104.4(CYP1B1):c.1023G>A (p.Trp341Ter)
NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs)	rs587778873
NM_000104.4(CYP1B1):c.1536_1541del (p.Pro513_Lys514del)	rs751768343
NM_000104.4(CYP1B1):c.181G>A (p.Gly61Arg)	rs1682512619
NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)
NM_000104.4(CYP1B1):c.535del (p.Ala179fs)	rs771076928
NM_000104.4(CYP1B1):c.797GCAACTTCA[1] (p.Ser269_Phe271del)	rs72466462
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer)	rs766425037
NM_000104.4(CYP1B1):c.868del (p.Arg290fs)
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs)	rs587778875
NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)	rs765666893

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.