List of variants reported as likely pathogenic for Usher syndrome by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level:
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP
NM_000260.4(MYO7A):c.1085_1086del (p.Asn362fs)
NM_000260.4(MYO7A):c.1168C>T (p.Gln390Ter)
NM_000260.4(MYO7A):c.2355del (p.Asn786fs)
NM_000260.4(MYO7A):c.2837T>G (p.Met946Arg)
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn)
NM_033056.4(PCDH15):c.556C>T (p.Gln186Ter)
NM_052995.2(CLRN1):c.140C>A (p.Ala47Asp)	rs374963432
NM_153676.4(USH1C):c.311G>A (p.Gly104Asp)	rs1317951509
NM_206933.4(USH2A):c.13782_13794delinsCCTAC (p.Ile4595fs)
NM_206933.4(USH2A):c.1521T>A (p.Tyr507Ter)

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.