ClinVar Miner

List of variants studied for CNGA3-related retinopathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.1279C>T (p.Arg427Cys) rs141386891 0.00036
NM_001298.3(CNGA3):c.847C>T (p.Arg283Trp) rs104893613 0.00002
NM_001298.3(CNGA3):c.1641C>A (p.Phe547Leu) rs104893617

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