ClinVar Miner

List of variants in gene PDE6C reported as likely pathogenic for achromatopsia

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser) rs1564801134
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)
NM_006204.4(PDE6C):c.1847+3_1847+6del rs1554890513
NM_006204.4(PDE6C):c.1958T>C (p.Leu653Pro) rs863224908
NM_006204.4(PDE6C):c.595A>G (p.Lys199Glu) rs1554888858
NM_006204.4(PDE6C):c.631G>T (p.Glu211Ter) rs1554888861
NM_006204.4(PDE6C):c.836T>C (p.Ile279Thr) rs762152984
NM_006204.4(PDE6C):c.864+1G>A rs1023522305

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