ClinVar Miner

List of variants reported as pathogenic for CNGA3-related retinopathy by Mendelics

Included ClinVar conditions (1):

Achromatopsia 2

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)	rs104893620	0.00007
NM_001298.3(CNGA3):c.1717T>C (p.Tyr573His)	rs1330420689	0.00001
NM_001298.3(CNGA3):c.674-1G>A	rs949254623

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