List of variants in gene PDE6A reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	rs144484128	0.00001
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.998+2T>G	rs1753505068
NM_000440.3(PDE6A):c.999-2A>G	rs1753232409

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