List of variants in gene PDE6A reported as likely pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.1065+2T>A	rs1554090012
NM_000440.3(PDE6A):c.1361del (p.Val454fs)	rs1064797315
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	rs773065850
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter)	rs1161389116

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