ClinVar Miner

List of variants reported as uncertain significance for color vision disorder by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (16):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.101+1G>A	rs147118493	0.00014
NM_001377295.2(GNAT2):c.506C>A (p.Pro169His)
NM_006204.4(PDE6C):c.1723T>A (p.Phe575Ile)

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