List of variants in gene PRPH2 reported by Institute of Human Genetics, University of Leipzig Medical Center

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: 7

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.246_249del (p.Cys82fs)	rs1761915143
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.692C>G (p.Ser231Ter)	rs1554269046
NM_000322.5(PRPH2):c.797G>A (p.Gly266Asp)	rs62645935
NM_000322.5(PRPH2):c.809T>C (p.Leu270Pro)	rs2152005198
NM_000322.5(PRPH2):c.904G>T (p.Glu302Ter)	rs61748430

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.