List of variants in gene GJB2 reported as pathogenic by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

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: 9

Download table as spreadsheet

HGVS	dbSNP
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)	rs35887622
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)	rs72474224
NM_004004.6(GJB2):c.167del (p.Leu56fs)	rs80338942
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)	rs104894397
NM_004004.6(GJB2):c.235del (p.Leu79fs)	rs80338943
NM_004004.6(GJB2):c.35del (p.Gly12fs)	rs80338939
NM_004004.6(GJB2):c.439G>A (p.Glu147Lys)	rs767178508
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)	rs998045226
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)	rs104894396

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.