ClinVar Miner

List of variants in gene CNGA3 reported as likely pathogenic for Achromatopsia 2

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Total variants: 3
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HGVS dbSNP
NM_001079878.2(CNGA3):c.101+1G>A rs147118493
NM_001079878.2(CNGA3):c.130_151dup (p.Ala51fs) rs1558811557
NM_001298.3(CNGA3):c.778G>A (p.Asp260Asn)

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