ClinVar Miner

List of variants reported as likely pathogenic for color vision disorder by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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.1100G>T (p.Gly367Val)	rs2467029136
NM_001298.3(CNGA3):c.1719C>G (p.Tyr573Ter)	rs2468060681
NM_001377295.2(GNAT2):c.874+1G>T	rs1302332659

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