List of variants in gene PDE6A reported as likely pathogenic for perceptual disorders

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: 42

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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.305G>A (p.Arg102His)	rs750539462	0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter)	rs146591309	0.00004
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)	rs373537826	0.00002
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr)	rs943943635	0.00002
NM_000440.3(PDE6A):c.1407+1G>C	rs781616522	0.00001
NM_000440.3(PDE6A):c.1620+1G>A	rs781377291	0.00001
NM_000440.3(PDE6A):c.1620+2T>A	rs1383907349	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.2302G>T (p.Glu768Ter)	rs759563967	0.00001
NM_000440.3(PDE6A):c.1066-1G>A
NM_000440.3(PDE6A):c.1097del (p.Asp366fs)	rs1581186849
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)
NM_000440.3(PDE6A):c.1205C>A (p.Thr402Lys)
NM_000440.3(PDE6A):c.1263+1G>T	rs369896113
NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)
NM_000440.3(PDE6A):c.1358_1359del (p.Ile453fs)	rs1752838447
NM_000440.3(PDE6A):c.1407+1G>A	rs781616522
NM_000440.3(PDE6A):c.1444T>C (p.Cys482Arg)
NM_000440.3(PDE6A):c.1535_1541del (p.Pro512fs)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln)	rs776918069
NM_000440.3(PDE6A):c.1724T>C (p.Leu575Pro)	rs759537984
NM_000440.3(PDE6A):c.1927-1G>C
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs)	rs773065850
NM_000440.3(PDE6A):c.1A>G (p.Met1Val)	rs976670244
NM_000440.3(PDE6A):c.2135+1G>A
NM_000440.3(PDE6A):c.2327del (p.Phe776fs)
NM_000440.3(PDE6A):c.2332_2335del (p.Asp778fs)	rs754012367
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)	rs767540194
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
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
NM_000440.3(PDE6A):c.788T>C (p.Leu263Pro)
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter)	rs1754021035
NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)
NM_000440.3(PDE6A):c.999-2A>G	rs1753232409

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