ClinVar Miner

List of variants reported as benign for Achromatopsia by Illumina Laboratory Services, Illumina

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_019098.4(CNGB3):c.*1881T>C rs990193 0.91428
NM_006204.4(PDE6C):c.1270-7A>G rs616522 0.73216
NM_006204.4(PDE6C):c.1935+10C>A rs1409332 0.43098
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865 0.39072
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550 0.36884
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228 0.23737
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149 0.07060
NM_006204.4(PDE6C):c.1270-9C>T rs11187564 0.05345
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928 0.00210
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978

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