ClinVar Miner

List of variants studied for Achromatopsia 2 by OMIM

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Total variants: 10
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HGVS dbSNP
NM_001079878.2(CNGA3):c.1174C>T (p.Arg392Trp) rs137852608
NM_001079878.2(CNGA3):c.1252C>T (p.Arg418Trp) rs104893621
NM_001079878.2(CNGA3):c.1531G>A (p.Val511Met) rs104893619
NM_001079878.2(CNGA3):c.1587C>A (p.Phe529Leu) rs104893617
NM_001079878.2(CNGA3):c.1615G>A (p.Gly539Arg) rs104893615
NM_001079878.2(CNGA3):c.434C>T (p.Pro145Leu) rs104893612
NM_001079878.2(CNGA3):c.775C>T (p.Arg259Cys) rs104893620
NM_001079878.2(CNGA3):c.793C>T (p.Arg265Trp) rs104893613
NM_001079878.2(CNGA3):c.794G>A (p.Arg265Gln) rs104893614
NM_001079878.2(CNGA3):c.818C>G (p.Thr273Arg) rs104893616

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