List of variants in gene PDE6B reported as uncertain significance by Blueprint Genetics

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.2371G>A (p.Glu791Lys)	rs74411086	0.00198
NM_000283.4(PDE6B):c.804C>T (p.Leu268=)	rs147372374	0.00047
NM_000283.4(PDE6B):c.1553A>T (p.Lys518Ile)	rs369561957	0.00010
NM_000283.4(PDE6B):c.2387T>C (p.Met796Thr)	rs745856717	0.00002
NM_000283.4(PDE6B):c.694G>A (p.Glu232Lys)	rs201593198	0.00002
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met)	rs761619791	0.00001
NM_000283.4(PDE6B):c.1226C>G (p.Pro409Arg)	rs1736345541
NM_000283.4(PDE6B):c.1429C>A (p.Pro477Thr)	rs978566517
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val)	rs766049601
NM_000283.4(PDE6B):c.1810A>T (p.Thr604Ser)	rs1737239664
NM_000283.4(PDE6B):c.1833-3C>G	rs1241323917
NM_000283.4(PDE6B):c.1860C>A (p.His620Gln)	rs371908618
NM_000283.4(PDE6B):c.2152G>T (p.Asp718Tyr)	rs150639487
NM_000283.4(PDE6B):c.2429T>C (p.Leu810Pro)	rs1737988951
NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly)	rs1365261261

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.