ClinVar Miner

List of variants in gene CYP1B1 reported by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His) rs79204362 0.00125
NM_000104.4(CYP1B1):c.155C>T (p.Pro52Leu) rs201824781 0.00030
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.1267A>T (p.Asn423Tyr) rs104893629 0.00001
NM_000104.4(CYP1B1):c.694G>C (p.Gly232Arg) rs104893628 0.00001
NM_000104.4(CYP1B1):c.1093G>T (p.Gly365Trp) rs55771538
NM_000104.4(CYP1B1):c.1120G>A (p.Asp374Asn) rs104893622
NM_000104.4(CYP1B1):c.1200_1209dup (p.Thr404fs) rs587778873
NM_000104.4(CYP1B1):c.174del (p.Pro58_Leu59insTer) rs2125316417
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr) rs72549389
NM_000104.4(CYP1B1):c.434_443del (p.Arg145fs) rs2125316235
NM_000104.4(CYP1B1):c.535del (p.Ala179fs) rs771076928
NM_000104.4(CYP1B1):c.783C>A (p.Phe261Leu) rs1558603396
NM_000104.4(CYP1B1):c.830del (p.Phe276_Leu277insTer) rs766425037
NM_000104.4(CYP1B1):c.868dup (p.Arg290fs) rs587778875

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.