ClinVar Miner

List of variants reported as pathogenic for color vision disorder by Neuberg Centre For Genomic Medicine, NCGM

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp)	rs104893621	0.00003
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu)	rs104893617

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