List of variants in gene RP2 reported as pathogenic for retinitis pigmentosa 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
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_006915.3(RP2):c.299dup (p.Phe101fs)	rs1924900389
NM_006915.3(RP2):c.333_334del (p.Leu112fs)	rs2147081300
NM_006915.3(RP2):c.352C>T (p.Arg118Cys)	rs1556318633
NM_006915.3(RP2):c.353G>A (p.Arg118His)	rs28933687
NM_006915.3(RP2):c.353G>T (p.Arg118Leu)	rs28933687
NM_006915.3(RP2):c.358C>T (p.Arg120Ter)	rs104894927
NM_006915.3(RP2):c.450G>A (p.Trp150Ter)	rs1924906177
NM_006915.3(RP2):c.453C>G (p.Tyr151Ter)	rs104894926
NM_006915.3(RP2):c.453del (p.Tyr152Ilefs*4)	rs2147081376
NM_006915.3(RP2):c.465_468dup (p.Phe157fs)	rs2147081378
NM_006915.3(RP2):c.768+1G>A	rs1924915809
NM_006915.3(RP2):c.76C>T (p.Gln26Ter)	rs104894925
NM_006915.3(RP2):c.883+1del

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.