ClinVar Miner

List of variants reported as pathogenic for cone dystrophy 4

Included ClinVar conditions (2):
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Total variants: 14
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HGVS dbSNP
NM_006204.4(PDE6C):c.1363A>G (p.Met455Val) rs121918539
NM_006204.4(PDE6C):c.1483-2A>G rs786200910
NM_006204.4(PDE6C):c.1682dup (p.Tyr561Ter) rs786200911
NM_006204.4(PDE6C):c.1805A>T (p.His602Leu) rs267606934
NM_006204.4(PDE6C):c.2367+1_2367+5del rs796051871
NM_006204.4(PDE6C):c.2368G>A (p.Glu790Lys) rs267606936
NM_006204.4(PDE6C):c.2457T>A (p.Tyr819Ter) rs267606935
NM_006204.4(PDE6C):c.254_255AG[3] (p.Leu87fs) rs786200908
NM_006204.4(PDE6C):c.481-12T>A rs786200909
NM_006204.4(PDE6C):c.633G>C (p.Glu211Asp) rs387906401
NM_006204.4(PDE6C):c.826C>T (p.Arg276Ter) rs267606937
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537
NM_006204.4(PDE6C):c.967T>A (p.Tyr323Asn) rs121918538

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