List of variants in gene PDE6A reported by Mendelics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)	rs114973968	0.00309
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)	rs139444207	0.00015
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)	rs121918576	0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)	rs1390479623
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)	rs1581180469
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)	rs375659222
NM_000440.3(PDE6A):c.1838+1G>A	rs2113558095
NM_000440.3(PDE6A):c.2064del (p.Lys689fs)	rs1581164958
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194

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