ClinVar Miner

List of variants in gene PDE6A reported as uncertain significance for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.*2400G>A rs74771814 0.01987
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_000440.3(PDE6A):c.1476A>C (p.Gln492His) rs17711594 0.00665
NM_000440.3(PDE6A):c.*599C>T rs150867395 0.00603
NM_000440.3(PDE6A):c.*178T>C rs113302481 0.00521
NM_000440.3(PDE6A):c.1086G>A (p.Ala362=) rs142259966 0.00445
NM_000440.3(PDE6A):c.933+4C>T rs12109444 0.00393
NM_000440.3(PDE6A):c.*1676T>C rs115580452 0.00362
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968 0.00309
NM_000440.3(PDE6A):c.*1967C>T rs538582690 0.00291
NM_000440.3(PDE6A):c.*2383G>A rs77109719 0.00253
NM_000440.3(PDE6A):c.*1315G>A rs144468326 0.00244
NM_000440.3(PDE6A):c.-11G>T rs112926956 0.00230
NM_000440.3(PDE6A):c.*1703A>C rs149268409 0.00224
NM_000440.3(PDE6A):c.102C>T (p.Ser34=) rs140009042 0.00188
NM_000440.3(PDE6A):c.*1515G>A rs536740900 0.00180
NM_000440.3(PDE6A):c.*51A>T rs372592244 0.00146
NM_000440.3(PDE6A):c.918G>A (p.Arg306=) rs139553131 0.00124
NM_000440.3(PDE6A):c.-57C>T rs560865338 0.00116
NM_000440.3(PDE6A):c.*1693A>C rs116427816 0.00106
NM_000440.3(PDE6A):c.2568C>T (p.Ser856=) rs147000954 0.00099
NM_000440.3(PDE6A):c.2549G>T (p.Gly850Val) rs138315990 0.00098
NM_000440.3(PDE6A):c.2038A>G (p.Met680Val) rs148598583 0.00094
NM_000440.3(PDE6A):c.498G>A (p.Val166=) rs138274547 0.00092
NM_000440.3(PDE6A):c.343G>A (p.Val115Ile) rs147159579 0.00081
NM_000440.3(PDE6A):c.765C>T (p.Ile255=) rs141300510 0.00080
NM_000440.3(PDE6A):c.940A>C (p.Asn314His) rs150755165 0.00071
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000440.3(PDE6A):c.1408-11G>A rs201527437 0.00059
NM_000440.3(PDE6A):c.*2138G>A rs756742673 0.00057
NM_000440.3(PDE6A):c.*2461C>T rs551329710 0.00054
NM_000440.3(PDE6A):c.*951C>T rs565361431 0.00051
NM_000440.3(PDE6A):c.*2889C>G rs757612877 0.00048
NM_000440.3(PDE6A):c.2238T>G (p.Gly746=) rs145809648 0.00048
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000440.3(PDE6A):c.*1780C>T rs184935833 0.00038
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000440.3(PDE6A):c.2144T>C (p.Met715Thr) rs144970068 0.00036
NM_000440.3(PDE6A):c.298C>T (p.Arg100Trp) rs200540105 0.00033
NM_000440.3(PDE6A):c.1614A>G (p.Pro538=) rs139697733 0.00032
NM_000440.3(PDE6A):c.*1057C>T rs144135425 0.00031
NM_000440.3(PDE6A):c.1952A>G (p.Asn651Ser) rs149380104 0.00029
NM_000440.3(PDE6A):c.497T>C (p.Val166Ala) rs199887926 0.00026
NM_000440.3(PDE6A):c.282G>A (p.Met94Ile) rs150808864 0.00023
NM_000440.3(PDE6A):c.1534C>T (p.Pro512Ser) rs138002814 0.00021
NM_000440.3(PDE6A):c.853C>A (p.Gln285Lys) rs201406216 0.00020
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.*704G>A rs777001495 0.00016
NM_000440.3(PDE6A):c.2125G>A (p.Glu709Lys) rs148637474 0.00016
NM_000440.3(PDE6A):c.879G>A (p.Pro293=) rs137853899 0.00016
NM_000440.3(PDE6A):c.2252C>T (p.Thr751Met) rs143080578 0.00015
NM_000440.3(PDE6A):c.1954C>T (p.Arg652Cys) rs199748187 0.00014
NM_000440.3(PDE6A):c.998C>T (p.Pro333Leu) rs368428076 0.00014
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000440.3(PDE6A):c.*2616G>A rs777837397 0.00012
NM_000440.3(PDE6A):c.1728+13C>T rs144868706 0.00011
NM_000440.3(PDE6A):c.2359-17C>T rs368621811 0.00011
NM_000440.3(PDE6A):c.299G>A (p.Arg100Gln) rs199738915 0.00011
NM_000440.3(PDE6A):c.*1762A>G rs868404248 0.00010
NM_000440.3(PDE6A):c.103G>A (p.Asp35Asn) rs374847529 0.00010
NM_000440.3(PDE6A):c.2037G>A (p.Thr679=) rs140267699 0.00010
NM_000440.3(PDE6A):c.2526G>A (p.Pro842=) rs376909494 0.00010
NM_000440.3(PDE6A):c.*1695G>A rs867317358 0.00009
NM_000440.3(PDE6A):c.1092G>A (p.Ala364=) rs774836540 0.00009
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.2248C>T (p.Arg750Cys) rs577146307 0.00009
NM_000440.3(PDE6A):c.274G>A (p.Asp92Asn) rs199924410 0.00009
NM_000440.3(PDE6A):c.710G>A (p.Arg237His) rs772815917 0.00009
NM_000440.3(PDE6A):c.830T>C (p.Val277Ala) rs145608358 0.00009
NM_000440.3(PDE6A):c.1836G>A (p.Met612Ile) rs142934552 0.00008
NM_000440.3(PDE6A):c.*1867A>T rs971352928 0.00006
NM_000440.3(PDE6A):c.*522T>G rs941850883 0.00006
NM_000440.3(PDE6A):c.1032C>T (p.Ser344=) rs121918577 0.00006
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe) rs141370975 0.00006
NM_000440.3(PDE6A):c.2275-1G>A rs1428612396 0.00006
NM_000440.3(PDE6A):c.2479A>C (p.Lys827Gln) rs780450680 0.00006
NM_000440.3(PDE6A):c.*1339T>G rs911447952 0.00005
NM_000440.3(PDE6A):c.*1389T>C rs886060210 0.00005
NM_000440.3(PDE6A):c.*2717G>A rs578087908 0.00005
NM_000440.3(PDE6A):c.1296A>G (p.Leu432=) rs372161698 0.00005
NM_000440.3(PDE6A):c.2131G>A (p.Val711Ile) rs764962408 0.00005
NM_000440.3(PDE6A):c.285C>T (p.Ser95=) rs765008436 0.00005
NM_000440.3(PDE6A):c.363C>T (p.Leu121=) rs767520227 0.00005
NM_000440.3(PDE6A):c.1349T>C (p.Phe450Ser) rs185588836 0.00004
NM_000440.3(PDE6A):c.1824C>G (p.Asn608Lys) rs773601046 0.00004
NM_000440.3(PDE6A):c.1874C>T (p.Ser625Phe) rs201535083 0.00004
NM_000440.3(PDE6A):c.2432C>T (p.Ala811Val) rs770823436 0.00004
NM_000440.3(PDE6A):c.384C>T (p.Pro128=) rs192618681 0.00004
NM_000440.3(PDE6A):c.397G>A (p.Val133Ile) rs768596256 0.00004
NM_000440.3(PDE6A):c.*1335C>T rs879722083 0.00003
NM_000440.3(PDE6A):c.758C>T (p.Thr253Met) rs778857421 0.00003
NM_000440.3(PDE6A):c.2369G>A (p.Arg790His) rs375516599 0.00002
NM_000440.3(PDE6A):c.2495C>T (p.Ser832Leu) rs750503504 0.00002
NM_000440.3(PDE6A):c.2525C>T (p.Pro842Leu) rs542180384 0.00002
NM_000440.3(PDE6A):c.2534A>T (p.Asn845Ile) rs765192034 0.00002
NM_000440.3(PDE6A):c.2548_2552del (p.Gly850fs) rs1240421230 0.00002
NM_000440.3(PDE6A):c.481C>G (p.His161Asp) rs758150381 0.00002
NM_000440.3(PDE6A):c.*814T>C rs1458662327 0.00001
NM_000440.3(PDE6A):c.*938A>C rs886060212 0.00001
NM_000440.3(PDE6A):c.1407G>C (p.Leu469Phe) rs727504073 0.00001
NM_000440.3(PDE6A):c.1607A>G (p.His536Arg) rs890622058 0.00001
NM_000440.3(PDE6A):c.1729-4C>T rs555052906 0.00001
NM_000440.3(PDE6A):c.175G>A (p.Glu59Lys) rs779392630 0.00001
NM_000440.3(PDE6A):c.1926+6A>T rs765481142 0.00001
NM_000440.3(PDE6A):c.197G>A (p.Arg66Gln) rs753177050 0.00001
NM_000440.3(PDE6A):c.2254G>A (p.Val752Met) rs536549575 0.00001
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) rs746482403 0.00001
NM_000440.3(PDE6A):c.43T>A (p.Ser15Thr) rs1754417825 0.00001
NM_000440.3(PDE6A):c.628-5T>G rs757034771 0.00001
NM_000440.3(PDE6A):c.*1251C>A rs1760060829
NM_000440.3(PDE6A):c.*126T>C rs886060216
NM_000440.3(PDE6A):c.*1304G>A rs886060211
NM_000440.3(PDE6A):c.*1359G>T rs551130416
NM_000440.3(PDE6A):c.*2029G>A rs1760029760
NM_000440.3(PDE6A):c.*2068G>A rs251458
NM_000440.3(PDE6A):c.*2582T>C rs1760007422
NM_000440.3(PDE6A):c.*2615C>T rs965453260
NM_000440.3(PDE6A):c.*2620C>A rs188603235
NM_000440.3(PDE6A):c.*2626C>G rs367679417
NM_000440.3(PDE6A):c.*38T>C rs1760108860
NM_000440.3(PDE6A):c.*714G>C rs1398735404
NM_000440.3(PDE6A):c.*932T>C rs990393994
NM_000440.3(PDE6A):c.*955C>T rs1760069963
NM_000440.3(PDE6A):c.*956G>A rs185298177
NM_000440.3(PDE6A):c.1114-9_1114-5del rs1561737370
NM_000440.3(PDE6A):c.1130A>G (p.Glu377Gly) rs1752887985
NM_000440.3(PDE6A):c.1216C>G (p.Arg406Gly) rs745976733
NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr)
NM_000440.3(PDE6A):c.1482G>A (p.Glu494=)
NM_000440.3(PDE6A):c.1535C>T (p.Pro512Leu)
NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg) rs762456548
NM_000440.3(PDE6A):c.1689C>A (p.His563Gln) rs776918069
NM_000440.3(PDE6A):c.1702G>A (p.Gly568Arg) rs2113582384
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.1776G>A (p.Met592Ile) rs1752302695
NM_000440.3(PDE6A):c.1927-13T>G rs1275387294
NM_000440.3(PDE6A):c.1965T>C (p.His655=) rs753303277
NM_000440.3(PDE6A):c.1966G>A (p.Glu656Lys)
NM_000440.3(PDE6A):c.2011C>T (p.Leu671Phe)
NM_000440.3(PDE6A):c.2042T>A (p.Phe681Tyr)
NM_000440.3(PDE6A):c.2098T>C (p.Tyr700His) rs1581164903
NM_000440.3(PDE6A):c.2135+15G>C rs372808484
NM_000440.3(PDE6A):c.2135+5G>A rs2113549054
NM_000440.3(PDE6A):c.2242C>A (p.Leu748Met)
NM_000440.3(PDE6A):c.2245G>A (p.Glu749Lys)
NM_000440.3(PDE6A):c.2322C>T (p.Val774=) rs766767235
NM_000440.3(PDE6A):c.2338G>A (p.Val780Ile)
NM_000440.3(PDE6A):c.2417G>A (p.Arg806His) rs145718445
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.253C>G (p.Leu85Val) rs778014812
NM_000440.3(PDE6A):c.2541C>A (p.Ser847Arg)
NM_000440.3(PDE6A):c.256T>C (p.Cys86Arg)
NM_000440.3(PDE6A):c.300G>A (p.Arg100=) rs886060217
NM_000440.3(PDE6A):c.332G>A (p.Arg111Lys)
NM_000440.3(PDE6A):c.367G>A (p.Asp123Asn) rs147010346
NM_000440.3(PDE6A):c.378G>A (p.Val126=)
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.578T>C (p.Met193Thr) rs1195726721
NM_000440.3(PDE6A):c.672G>T (p.Val224=) rs1219967457
NM_000440.3(PDE6A):c.733G>A (p.Gly245Arg)
NM_000440.3(PDE6A):c.858+5G>T rs1754018441
NM_000440.3(PDE6A):c.924G>A (p.Pro308=)
NM_000440.3(PDE6A):c.944T>G (p.Phe315Cys) rs762090796

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