ClinVar Miner

List of variants in gene PDE6A studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000440.3(PDE6A):c.*756T>C rs4705388 0.65681
NM_000440.3(PDE6A):c.*608T>C rs4705389 0.64714
NM_000440.3(PDE6A):c.*796A>G rs4705387 0.64137
NM_000440.3(PDE6A):c.*1365G>A rs888895 0.62508
NM_000440.3(PDE6A):c.*2009T>C rs2005909 0.61189
NM_000440.3(PDE6A):c.*2110A>G rs759816 0.59199
NM_000440.3(PDE6A):c.*2194G>A rs30886 0.44908
NM_000440.3(PDE6A):c.*2336C>T rs30885 0.44141
NM_000440.3(PDE6A):c.*2542G>A rs30884 0.37685
NM_000440.3(PDE6A):c.1408-34A>G rs2244836 0.31937
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.2424G>A (p.Glu808=) rs10067462 0.04249
NM_000440.3(PDE6A):c.647A>G (p.Asn216Ser) rs10057110 0.04068
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.*2769A>C rs78827133 0.02540
NM_000440.3(PDE6A):c.*2771G>C rs17110632 0.02378
NM_000440.3(PDE6A):c.*2400G>A rs74771814 0.01987
NM_000440.3(PDE6A):c.998+11C>T rs75319698 0.01758
NM_000440.3(PDE6A):c.1171G>A (p.Val391Met) rs61732059 0.01720
NM_000440.3(PDE6A):c.*2229C>T rs115656079 0.01705
NM_000440.3(PDE6A):c.1017T>C (p.His339=) rs61733364 0.01655
NM_000440.3(PDE6A):c.1963C>T (p.His655Tyr) rs78775072 0.01647
NM_000440.3(PDE6A):c.84C>T (p.Tyr28=) rs34230349 0.01488
NM_000440.3(PDE6A):c.*2525A>C rs111440604 0.01200
NM_000440.3(PDE6A):c.*2853C>G rs73796297 0.00920
NM_000440.3(PDE6A):c.*2662A>G rs150127383 0.00793
NM_000440.3(PDE6A):c.*169T>C rs150003610 0.00783
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.-42C>T rs113137904 0.00603
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363 0.00596
NM_000440.3(PDE6A):c.*1720T>A rs74869635 0.00595
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.177A>G (p.Glu59=) rs146550067 0.00050
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.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.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.1705C>A (p.Gln569Lys) rs139444207 0.00015
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.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.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.1745G>A (p.Arg582His) rs77760924 0.00009
NM_000440.3(PDE6A):c.2119C>T (p.Arg707Trp) rs142092713 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.*1867A>T rs971352928 0.00006
NM_000440.3(PDE6A):c.*522T>G rs941850883 0.00006
NM_000440.3(PDE6A):c.1255C>T (p.Leu419Phe) rs141370975 0.00006
NM_000440.3(PDE6A):c.2053G>A (p.Val685Met) rs121909835 0.00006
NM_000440.3(PDE6A):c.2275-1G>A rs1428612396 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.305G>A (p.Arg102His) rs750539462 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.769C>T (p.Arg257Ter) rs146591309 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.998+1G>A rs748946491 0.00003
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln) rs373537826 0.00002
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.2548_2552del (p.Gly850fs) rs1240421230 0.00002
NM_000440.3(PDE6A):c.2T>C (p.Met1Thr) rs943943635 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.1054C>T (p.Gln352Ter) rs1581190641 0.00001
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.1729-4C>T rs555052906 0.00001
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter) rs121918576 0.00001
NM_000440.3(PDE6A):c.175G>A (p.Glu59Lys) rs779392630 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.2317C>T (p.Gln773Ter) rs770529851 0.00001
NM_000440.3(PDE6A):c.2350G>A (p.Val784Ile) rs746482403 0.00001
NM_000440.3(PDE6A):c.2506+1G>A rs1561671507 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.1032C>A (p.Ser344Arg) rs121918577
NM_000440.3(PDE6A):c.1054del (p.Gln352fs)
NM_000440.3(PDE6A):c.1065+2T>A rs1554090012
NM_000440.3(PDE6A):c.1066-1G>A
NM_000440.3(PDE6A):c.1097del (p.Asp366fs) rs1581186849
NM_000440.3(PDE6A):c.1117G>T (p.Glu373Ter) rs2113595869
NM_000440.3(PDE6A):c.1130A>G (p.Glu377Gly) rs1752887985
NM_000440.3(PDE6A):c.1166C>T (p.Pro389Leu)
NM_000440.3(PDE6A):c.1273C>T (p.Gln425Ter)
NM_000440.3(PDE6A):c.127G>A (p.Ala43Thr)
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.1358_1359del (p.Ile453fs) rs1752838447
NM_000440.3(PDE6A):c.1359_1361delinsCC (p.Val454fs) rs1752838269
NM_000440.3(PDE6A):c.1407+1G>A rs781616522
NM_000440.3(PDE6A):c.1408-2A>G rs1060499536
NM_000440.3(PDE6A):c.1535_1541del (p.Pro512fs)
NM_000440.3(PDE6A):c.1560dup (p.Cys521fs) rs2113586537
NM_000440.3(PDE6A):c.159C>A (p.Ser53Arg) rs762456548
NM_000440.3(PDE6A):c.1610T>C (p.Ile537Thr) rs1581177868
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter) rs375659222
NM_000440.3(PDE6A):c.1683G>A (p.Trp561Ter) rs121918578
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.1776G>A (p.Met592Ile) rs1752302695
NM_000440.3(PDE6A):c.1838+1G>A rs2113558095
NM_000440.3(PDE6A):c.1926+1G>A rs794727139
NM_000440.3(PDE6A):c.1927-1G>C
NM_000440.3(PDE6A):c.1927-21C>G rs75282782
NM_000440.3(PDE6A):c.1955_1974dup (p.Ile659fs) rs773065850
NM_000440.3(PDE6A):c.1956_1957insTGACAGCATGAGCATGCCGT (p.Arg653Ter) rs1761073125
NM_000440.3(PDE6A):c.1960C>T (p.Gln654Ter) rs1581166539
NM_000440.3(PDE6A):c.1965T>C (p.His655=) rs753303277
NM_000440.3(PDE6A):c.1A>G (p.Met1Val) rs976670244
NM_000440.3(PDE6A):c.2027+2T>G rs1259637349
NM_000440.3(PDE6A):c.205C>T (p.Gln69Ter) rs1450419928
NM_000440.3(PDE6A):c.2064del (p.Lys689fs) rs1581164958
NM_000440.3(PDE6A):c.2081_2085del (p.Glu694fs) rs1581164936
NM_000440.3(PDE6A):c.2083C>T (p.Gln695Ter) rs1161389116
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+1G>A
NM_000440.3(PDE6A):c.2135+1G>T rs561600163
NM_000440.3(PDE6A):c.2135+5G>A rs2113549054
NM_000440.3(PDE6A):c.2322C>T (p.Val774=) rs766767235
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.2417G>A (p.Arg806His) rs145718445
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>G (p.Leu85Val) rs778014812
NM_000440.3(PDE6A):c.300G>A (p.Arg100=) rs886060217
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.367G>A (p.Asp123Asn) rs147010346
NM_000440.3(PDE6A):c.38T>A (p.Leu13Gln) rs1754418004
NM_000440.3(PDE6A):c.409delinsCT (p.Asp137fs) rs1581217626
NM_000440.3(PDE6A):c.578T>C (p.Met193Thr) rs1195726721
NM_000440.3(PDE6A):c.612del (p.Lys205fs) rs1265680220
NM_000440.3(PDE6A):c.627+2T>G rs1581211727
NM_000440.3(PDE6A):c.672G>T (p.Val224=) rs1219967457
NM_000440.3(PDE6A):c.715C>T (p.Gln239Ter)
NM_000440.3(PDE6A):c.743T>A (p.Val248Asp) rs1581209421
NM_000440.3(PDE6A):c.934-27_934-26del rs60750624
NM_000440.3(PDE6A):c.934G>T (p.Glu312Ter)
NM_000440.3(PDE6A):c.944T>G (p.Phe315Cys) rs762090796
NM_000440.3(PDE6A):c.999-2A>G rs1753232409

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