ClinVar Miner

List of variants studied for CNGA3-related retinopathy by Department of Pathology and Laboratory Medicine, Sinai Health System

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu) rs141086649 0.00016
NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu) rs148496805 0.00012
NM_001298.3(CNGA3):c.1349C>T (p.Thr450Met) rs536496690 0.00007
NM_001298.3(CNGA3):c.1585G>A (p.Val529Met) rs104893619 0.00003
NM_001298.3(CNGA3):c.403C>A (p.Pro135Thr)
NM_001298.3(CNGA3):c.580G>A (p.Glu194Lys) rs2104235566
NM_001298.3(CNGA3):c.951T>A (p.Asn317Lys)

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