ClinVar Miner

List of variants studied for CNGA3-related retinopathy by 3billion, Medical Genetics

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.62C>G (p.Ser21Ter) rs1402442627 0.00002
NM_001298.3(CNGA3):c.1315C>T (p.Arg439Trp) rs749842881 0.00001
NM_001298.3(CNGA3):c.778dup (p.Asp260fs) rs756172609

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