List of variants in gene PDE6A reported as 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: 10

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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.998+1G>A	rs748946491	0.00003
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000440.3(PDE6A):c.1129G>T (p.Glu377Ter)
NM_000440.3(PDE6A):c.1926+1G>A	rs794727139
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.627+2T>G	rs1581211727
NM_000440.3(PDE6A):c.63_68del (p.Lys21_Tyr23delinsAsn)
NM_000440.3(PDE6A):c.706C>T (p.Arg236Ter)
NM_000440.3(PDE6A):c.84C>A (p.Tyr28Ter)

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