List of variants reported as pathogenic for Usher syndrome type 1F by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)	rs111033260	0.00012
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)	rs370261904	0.00001
NM_001384140.1(PCDH15):c.1583T>A (p.Val528Asp)	rs267606932	0.00001
NM_001384140.1(PCDH15):c.2785C>T (p.Arg929Ter)	rs1057516342	0.00001
NM_001384140.1(PCDH15):c.2971C>T (p.Arg991Ter)	rs754391973	0.00001
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)	rs137853003	0.00001
NM_001384140.1(PCDH15):c.7C>T (p.Arg3Ter)	rs137853001	0.00001
NM_001384140.1(PCDH15):c.1927C>T (p.Arg643Ter)	rs727504301
NM_001384140.1(PCDH15):c.1940C>G (p.Ser647Ter)	rs137853004
NM_001384140.1(PCDH15):c.3717+1G>A	rs748706627
NM_001384140.1(PCDH15):c.3717+1G>T	rs748706627
NM_001384140.1(PCDH15):c.400C>G (p.Arg134Gly)	rs137853003
NM_001384140.1(PCDH15):c.423_430dup (p.Ser144fs)	rs2134714165

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.