ClinVar Miner

List of variants reported as likely pathogenic for Achromatopsia

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Total variants: 22
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HGVS dbSNP
NM_001298.3(CNGA3):c.-37-1G>C rs1553447991
NM_001298.3(CNGA3):c.1306C>T (p.Arg436Trp) rs104893621
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158
NM_001298.3(CNGA3):c.1642G>A (p.Gly548Arg) rs781227859
NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys) rs147415641
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala) rs149802213
NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln) rs104893614
NM_001298.3(CNGA3):c.869G>A (p.Arg290His) rs199837807
NM_001298.3(CNGA3):c.904A>G (p.Arg302Gly) rs1574390600
NM_001298.3(CNGA3):c.934ATC[2] (p.Ile314del) rs777878533
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg) rs766703340
NM_006204.4(PDE6C):c.1847+3_1847+6del rs1554890513
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) rs1554888858
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) rs1554888861
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.864+1G>A rs1023522305
NM_007348.4(ATF6):c.417dup (p.Asn140Ter) rs765383904
NM_007348.4(ATF6):c.484+1G>T
NM_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.4(CNGB3):c.1700G>A (p.Gly567Glu) rs267602029
NM_019098.4(CNGB3):c.467C>T (p.Ser156Phe) rs139207764
NM_019098.4(CNGB3):c.782A>G (p.Asp261Gly) rs1233466909

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