ClinVar Miner

List of variants reported as pathogenic for achromatopsia by Molecular Genetics Laboratory,Institute for Ophthalmic Research

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_006204.4(PDE6C):c.1269+1G>A rs1554889905
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter) rs1028838062
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter) rs756324901
NM_006204.4(PDE6C):c.497del (p.Asp166fs) rs1554888848
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter) rs757622521
NM_006204.4(PDE6C):c.78del (p.Lys27fs) rs1554888353
NM_006204.4(PDE6C):c.857del (p.Lys286fs) rs1554888978

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