List of variants in gene PDE6H studied 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
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006205.3(PDE6H):c.-59G>C	rs11056264	0.10957
NM_006205.3(PDE6H):c.195A>G (p.Pro65=)	rs2230872	0.08891
NM_006205.3(PDE6H):c.*301A>G	rs77796036	0.01482
NM_006205.3(PDE6H):c.-29G>C	rs114575851	0.00911
NM_006205.3(PDE6H):c.-73C>A	rs188351941	0.00560
NM_006205.3(PDE6H):c.*319T>C	rs3748304	0.00160
NM_006205.3(PDE6H):c.*71C>T	rs144778897	0.00150
NM_006205.3(PDE6H):c.*358T>G	rs558075003	0.00036
NM_006205.3(PDE6H):c.*369A>G	rs571862339	0.00036
NM_006205.3(PDE6H):c.237G>C (p.Gln79His)	rs564659543	0.00016
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)	rs200311463	0.00012
NM_006205.3(PDE6H):c.*47G>C	rs886049108	0.00001
NM_006205.3(PDE6H):c.-42C>T	rs955172114	0.00001
NM_006205.2(PDE6H):c.-102G>T	rs533569725
NM_006205.3(PDE6H):c.*134G>A	rs886049110
NM_006205.3(PDE6H):c.*77C>G	rs886049109
NM_006205.3(PDE6H):c.232G>T (p.Ala78Ser)	rs199740819
NM_006205.3(PDE6H):c.59G>A (p.Arg20His)	rs775561506

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