List of variants in gene PDE6A reported as likely pathogenic for Retinitis pigmentosa

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys)	rs61733363	0.00596
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.1620+1G>A	rs781377291	0.00001
NM_000440.3(PDE6A):c.1630C>T (p.Arg544Trp)	rs144484128	0.00001
NM_000440.3(PDE6A):c.1684C>T (p.Arg562Trp)	rs759589388	0.00001
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)	rs753942596	0.00001
NM_000440.3(PDE6A):c.1407+1G>A	rs781616522
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)	rs976670244
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)	rs141252097
NM_000440.3(PDE6A):c.304C>T (p.Arg102Cys)	rs141252097
NM_000440.3(PDE6A):c.612del (p.Lys205fs)	rs1265680220
NM_000440.3(PDE6A):c.627+2T>G	rs1581211727

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