ClinVar Miner

List of variants in gene PDE6C reported as benign for Cone dystrophy 4

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Total variants: 10
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HGVS dbSNP
NM_006204.4(PDE6C):c.1098G>A (p.Ala366=) rs714550
NM_006204.4(PDE6C):c.1270-7A>G rs616522
NM_006204.4(PDE6C):c.1270-9C>T rs11187564
NM_006204.4(PDE6C):c.1380C>G (p.Thr460=) rs3737228
NM_006204.4(PDE6C):c.1935+10C>A rs1409332
NM_006204.4(PDE6C):c.2466G>A (p.Lys822=) rs79487435
NM_006204.4(PDE6C):c.252G>A (p.Leu84=) rs1131978
NM_006204.4(PDE6C):c.282C>T (p.Asp94=) rs12781149
NM_006204.4(PDE6C):c.471T>G (p.Asp157Glu) rs76999928
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr) rs701865

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