List of variants in gene PDE6B reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn)	rs141563823	0.00009
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter)	rs121918579	0.00006
NM_000283.4(PDE6B):c.1920+2T>C	rs763996159	0.00001
NM_000283.4(PDE6B):c.1832+1G>T	rs370758397
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs)	rs1296042817
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs)	rs1412122281

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