ClinVar Miner

List of variants reported as likely pathogenic for CNGA3-related retinopathy by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (1):

Achromatopsia 2

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.485A>T (p.Asp162Val)	rs747447519	0.00010
NM_001298.3(CNGA3):c.955T>C (p.Cys319Arg)	rs753625117	0.00001

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