List of variants in gene PDE6A reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	rs146591309	0.00004
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	rs144484128	0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000440.3(PDE6A):c.1843C>T (p.Gln615Ter)	rs1752223896
NM_000440.3(PDE6A):c.1927-1G>C
NM_000440.3(PDE6A):c.1927-1G>T	rs1761074706
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)	rs1754021035
NM_000440.3(PDE6A):c.998+2T>G	rs1753505068
NM_000440.3(PDE6A):c.999-2A>G	rs1753232409

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