ClinVar Miner

List of variants reported as likely pathogenic for Achromatopsia

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Total variants: 11
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HGVS dbSNP
NM_001079878.2(CNGA3):c.-37-1G>C rs1553447991
NM_001079878.2(CNGA3):c.815G>A (p.Arg272His) rs199837807
NM_001079878.2(CNGA3):c.880_882ATC[2] (p.Ile296del)
NM_006204.3(PDE6C):c.1847+3_1847+6delAAGT 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_019098.4(CNGB3):c.(211+1_212-1)_(338+1_339-1)del
NM_019098.4(CNGB3):c.1700G>A (p.Gly567Glu)

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