ClinVar Miner

List of variants in gene PDE6A studied for Retinal dystrophy

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Total variants: 65
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.331A>C (p.Arg111=) rs2277925 0.21963
NM_000440.3(PDE6A):c.465C>T (p.Asn155=) rs2277926 0.18879
NM_000440.3(PDE6A):c.2337T>C (p.Phe779=) rs17110644 0.05660
NM_000440.3(PDE6A):c.1791C>T (p.Phe597=) rs61733360 0.03204
NM_000440.3(PDE6A):c.2400C>T (p.Asp800=) rs4705390 0.03160
NM_000440.3(PDE6A):c.1017T>C (p.His339=) rs61733364 0.01655
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000440.3(PDE6A):c.1534C>T (p.Pro512Ser) rs138002814 0.00021
NM_000440.3(PDE6A):c.1936A>G (p.Ile646Val) rs147047715 0.00019
NM_000440.3(PDE6A):c.316G>A (p.Ala106Thr) rs200696413 0.00019
NM_000440.3(PDE6A):c.196C>T (p.Arg66Trp) rs149945348 0.00017
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) rs199748187 0.00014
NM_000440.3(PDE6A):c.2359-17C>T rs368621811 0.00011
NM_000440.3(PDE6A):c.1745G>A (p.Arg582His) rs77760924 0.00009
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 0.00009
NM_000440.3(PDE6A):c.1836G>A (p.Met612Ile) rs142934552 0.00008
NM_000440.3(PDE6A):c.1479G>A (p.Ala493=) rs772707339 0.00007
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=) rs121918577 0.00006
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) rs764962408 0.00005
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser) rs185588836 0.00004
NM_000440.3(PDE6A):c.240T>C (p.Asn80=) rs776664462 0.00004
NM_000440.3(PDE6A):c.2432C>T (p.Ala811Val) rs770823436 0.00004
NM_000440.3(PDE6A):c.769C>T (p.Arg257Ter) rs146591309 0.00004
NM_000440.3(PDE6A):c.2534A>T (p.Asn845Ile) rs765192034 0.00002
NM_000440.3(PDE6A):c.420C>T (p.Ile140=) rs542505960 0.00002
NM_000440.3(PDE6A):c.1407+1G>C rs781616522 0.00001
NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe) rs727504073 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.1707G>A (p.Gln569=) rs190218524 0.00001
NM_000440.3(PDE6A):c.1926+6A>T rs765481142 0.00001
NM_000440.3(PDE6A):c.2302G>T (p.Glu768Ter) rs759563967 0.00001
NM_000440.3(PDE6A):c.286C>T (p.Leu96=) rs148052388 0.00001
NM_000440.3(PDE6A):c.1114-9_1114-5del rs1561737370
NM_000440.3(PDE6A):c.1216C>G (p.Arg406Gly) rs745976733
NM_000440.3(PDE6A):c.1263+1G>T rs369896113
NM_000440.3(PDE6A):c.1482G>A (p.Glu494=)
NM_000440.3(PDE6A):c.1535C>T (p.Pro512Leu)
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.1731G>A (p.Thr577=)
NM_000440.3(PDE6A):c.1747_1752del (p.Tyr583_Phe584del) rs753002443
NM_000440.3(PDE6A):c.1927-13T>G rs1275387294
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.1966G>A (p.Glu656Lys)
NM_000440.3(PDE6A):c.2011C>T (p.Leu671Phe)
NM_000440.3(PDE6A):c.2338G>A (p.Val780Ile)
NM_000440.3(PDE6A):c.2493G>C (p.Gln831His) rs1760201855
NM_000440.3(PDE6A):c.2506+7G>A rs1382186195
NM_000440.3(PDE6A):c.2512G>A (p.Ala838Thr) rs778365507
NM_000440.3(PDE6A):c.253C>A (p.Leu85Met)
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser) rs141252097
NM_000440.3(PDE6A):c.332G>A (p.Arg111Lys)
NM_000440.3(PDE6A):c.421G>A (p.Val141Met)
NM_000440.3(PDE6A):c.472G>A (p.Glu158Lys)
NM_000440.3(PDE6A):c.543C>T (p.Pro181=)
NM_000440.3(PDE6A):c.733G>A (p.Gly245Arg)
NM_000440.3(PDE6A):c.816T>A (p.Cys272Ter) rs1754021035
NM_000440.3(PDE6A):c.858+5G>T rs1754018441
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)
NM_000440.3(PDE6A):c.999-2A>G rs1753232409

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