ClinVar Miner

List of variants studied for color vision disorder by GenomeConnect - Invitae Patient Insights Network

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

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HGVS	dbSNP	gnomAD frequency
NM_001385125.1(OPN1SW):c.173G>A (p.Arg58His)	rs764582600	0.00003
NM_006204.4(PDE6C):c.2284-10C>A	rs1199306848	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001

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