List of variants in gene PRPH2 reported as pathogenic for central areolar choroidal dystrophy

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_000322.5(PRPH2):c.623G>A (p.Gly208Asp)	rs139185976	0.00010
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)	rs61755771	0.00001
NM_000322.5(PRPH2):c.424C>T (p.Arg142Trp)	rs61755783	0.00001
NM_000322.5(PRPH2):c.273T>A (p.Tyr91Ter)	rs1761914145
NM_000322.5(PRPH2):c.273T>G (p.Tyr91Ter)
NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys)	rs61755781
NM_000322.5(PRPH2):c.514C>T (p.Arg172Trp)	rs61755792
NM_000322.5(PRPH2):c.515G>A (p.Arg172Gln)	rs61755793
NM_000322.5(PRPH2):c.545dup (p.Asn182fs)	rs2152010877
NM_000322.5(PRPH2):c.584G>T (p.Arg195Leu)	rs121918567
NM_000322.5(PRPH2):c.715C>T (p.Gln239Ter)	rs61755814
NM_000322.5(PRPH2):c.859C>T (p.Gln287Ter)
NM_000322.5(PRPH2):c.914del (p.Gly305fs)	rs2152003847

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.