List of variants in gene PDE6B 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly)	rs371911345	0.00002
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter)	rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G	rs1736426982
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His)	rs1737229618
NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup)	rs1734061767
NM_000283.4(PDE6B):c.1832+1G>T	rs370758397
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs)	rs869312177
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly)	rs1737442897
NM_000283.4(PDE6B):c.222dup (p.Val75fs)	rs1734066547
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter)	rs1064797304
NM_000283.4(PDE6B):c.928-9_940dup	rs539992414

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