List of variants in gene PDE6A reported as likely pathogenic by Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.305G>A (p.Arg102His)	rs750539462	0.00004
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	rs776918069
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)

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