List of variants in gene CDHR1 studied for Retinitis pigmentosa

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)	rs147346345	0.00446
NM_033100.4(CDHR1):c.295del (p.Glu99fs)	rs867166472	0.00004
NM_033100.4(CDHR1):c.1A>G (p.Met1Val)	rs794726954	0.00003
NM_033100.4(CDHR1):c.524dup (p.Asn176fs)	rs781781440	0.00002
NM_001171971.3(CDHR1):c.2087_2090del (p.Thr696fs)	rs1589313739
NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu)	rs142742994
NM_033100.4(CDHR1):c.1463G>A (p.Gly488Asp)	rs1842323988
NM_033100.4(CDHR1):c.1527T>G (p.Tyr509Ter)	rs1477733493
NM_033100.4(CDHR1):c.1A>T (p.Met1Leu)	rs794726954
NM_033100.4(CDHR1):c.2522_2528del (p.Ile841fs)	rs794727197
NM_033100.4(CDHR1):c.928C>T (p.Gln310Ter)	rs1842216995

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.