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

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: 13

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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.836T>C (p.Ile279Thr)	rs762152984	0.00001
NM_006204.4(PDE6C):c.1004+1G>A
NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)
NM_006204.4(PDE6C):c.1589T>C (p.Phe530Ser)	rs1564801134
NM_006204.4(PDE6C):c.1595T>G (p.Ile532Arg)	rs766703340
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.2053del (p.Gln685fs)
NM_006204.4(PDE6C):c.2254G>A (p.Glu752Lys)	rs2133878975
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.864+1G>A	rs1023522305

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