List of variants in gene PDE6B reported as likely benign for retinal disorder

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000283.4(PDE6B):c.915G>A (p.Thr305=)	rs75695239	0.05186
NM_000283.4(PDE6B):c.*20C>A	rs61760239	0.03551
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln)	rs113842820	0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=)	rs113459274	0.02570
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=)	rs61739716	0.01153
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=)	rs35792756	0.01026
NM_000283.4(PDE6B):c.2505A>G (p.Val835=)	rs61734864	0.00938
NM_000283.4(PDE6B):c.*414C>T	rs111404897	0.00925
NM_000283.4(PDE6B):c.873T>C (p.Ser291=)	rs142597807	0.00827
NM_000283.4(PDE6B):c.101C>T (p.Ala34Val)	rs148829093	0.00434
NM_000283.4(PDE6B):c.*474C>G	rs577140751	0.00180
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr)	rs79826315	0.00091
NM_000283.4(PDE6B):c.1401+4C>T	rs113246945	0.00077
NM_000283.4(PDE6B):c.651G>A (p.Thr217=)	rs200664252	0.00041
NM_000283.4(PDE6B):c.2504-1G>C	rs201870319	0.00029
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met)	rs149359860	0.00016
NM_000283.4(PDE6B):c.726G>A (p.Ser242=)	rs200975847	0.00009
NM_000283.4(PDE6B):c.2269-11C>T	rs370169775	0.00008
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln)	rs145756948	0.00007
NM_000283.4(PDE6B):c.59G>A (p.Arg20His)	rs781251175	0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile)	rs201584824	0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=)	rs148264146	0.00006
NM_000283.4(PDE6B):c.2409T>C (p.Asn803=)	rs200002559	0.00003
NM_000283.4(PDE6B):c.285C>T (p.Phe95=)	rs746211772	0.00003
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=)	rs373724992	0.00002
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=)	rs769147926	0.00002
NM_000283.4(PDE6B):c.2352+13C>T	rs374527841	0.00002
NM_000283.4(PDE6B):c.*21C>T	rs371005251	0.00001
NM_000283.4(PDE6B):c.*79A>G	rs753277194	0.00001
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe)	rs190999087	0.00001
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)

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