List of variants studied for Usher syndrome type 2C by OMIM

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.6901C>T (p.Gln2301Ter)	rs121909762	0.00004
NG_007083.1:g.371658_507674del
NM_032119.4(ADGRV1):c.18131A>G (p.Tyr6044Cys)	rs121909763
NM_032119.4(ADGRV1):c.18732_18750del (p.Gly6243_Tyr6244insTer)	rs796051865
NM_032119.4(ADGRV1):c.2258_2270del (p.Gln753fs)	rs796051866
NM_032119.4(ADGRV1):c.5357_5358del (p.Lys1786fs)	rs796051867
NM_032119.4(ADGRV1):c.8713_8716dup (p.Ile2906fs)	rs796051863
NM_032119.4(ADGRV1):c.8790del (p.Met2931fs)	rs796051864

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.