List of variants studied for Retinitis pigmentosa 39 by Institute of Human Genetics, University of Leipzig Medical Center

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

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	rs80338902	0.00137
NM_206933.4(USH2A):c.486-14G>A	rs374536346	0.00004
NM_206933.4(USH2A):c.908G>A (p.Arg303His)	rs371777049	0.00004
NM_206933.4(USH2A):c.11048-2A>G	rs200871041	0.00002
NM_206933.4(USH2A):c.2797C>T (p.Gln933Ter)	rs1394737087	0.00001
NM_206933.4(USH2A):c.6926G>T (p.Cys2309Phe)	rs748983904	0.00001
NM_206933.4(USH2A):c.10481C>G (p.Thr3494Arg)	rs1661681799
NM_206933.4(USH2A):c.12698G>A (p.Trp4233Ter)
NM_206933.4(USH2A):c.2023C>T (p.Gln675Ter)	rs868562952
NM_206933.4(USH2A):c.828C>G (p.Tyr276Ter)	rs1553250952
NM_206933.4(USH2A):c.9763C>T (p.Gln3255Ter)	rs1662226257

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.