ClinVar Miner

List of variants studied for color vision disorder by MGZ Medical Genetics Center

Included ClinVar conditions (16):

Achromatopsia
Achromatopsia 2
Achromatopsia 3
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy
Achromatopsia 3; Severe early-childhood-onset retinal dystrophy; Retinitis pigmentosa
Achromatopsia 4
Achromatopsia 6
Achromatopsia 7
Blue color blindness
Cone dystrophy 4
Cone dystrophy 4; Achromatopsia
Cone dystrophy 5, X-linked
Cone monochromatism
Deuteranomaly
Protan defect
Retinal cone dystrophy 3A

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

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.830G>A (p.Arg277His)	rs778114016	0.00002
NM_006204.4(PDE6C):c.2018A>G (p.Asp673Gly)
NM_006204.4(PDE6C):c.2242C>A (p.Gln748Lys)

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.