List of variants in gene PDE6C reported as pathogenic by Molecular Genetics Laboratory, Institute for Ophthalmic Research

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_006204.4(PDE6C):c.1579C>T (p.Arg527Ter)	rs1028838062	0.00004
NM_006204.4(PDE6C):c.775C>T (p.Arg259Ter)	rs757622521	0.00002
NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)	rs756324901	0.00001
NM_006204.4(PDE6C):c.1269+1G>A	rs1554889905
NM_006204.4(PDE6C):c.497del (p.Asp166fs)	rs1554888848
NM_006204.4(PDE6C):c.78del (p.Lys27fs)	rs1554888353
NM_006204.4(PDE6C):c.857del (p.Lys286fs)	rs1554888978

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