ClinVar Miner

List of variants in gene PDE6C reported as pathogenic for cone dystrophy 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp) rs121918537 0.00006
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521 0.00002
NM_006204.4(PDE6C):c.826C>T (p.Arg276Ter) rs267606937 0.00002
NM_006204.4(PDE6C):c.712C>T (p.Arg238Ter) rs762426409 0.00001
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984 0.00001
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
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.2036+2T>G rs1589704707
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter) rs1589705946
NM_006204.4(PDE6C):c.2283+1G>T rs760343056
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.256_257dup (p.Leu87fs) rs786200908
NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter) rs1589690942
NM_006204.4(PDE6C):c.481-12T>A rs786200909
NM_006204.4(PDE6C):c.633G>C (p.Glu211Asp) rs387906401
NM_006204.4(PDE6C):c.967T>A (p.Tyr323Asn) rs121918538

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