ClinVar Miner

List of variants reported as uncertain significance for Achromatopsia 2

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Total variants: 4

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HGVS	dbSNP
NM_001079878.2(CNGA3):c.101+1G>A	rs147118493
NM_001079878.2(CNGA3):c.1503G>A (p.Met501Ile)	rs199655686
NM_001079878.2(CNGA3):c.628G>A (p.Glu210Lys)	rs147415641
NM_001079878.2(CNGA3):c.980A>G (p.His327Arg)	rs780411290

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