ClinVar Miner

List of variants in gene PDE6B studied for Retinitis pigmentosa

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Gene type:
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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile) rs10902758 0.99926
NM_000283.4(PDE6B):c.*12A>G rs28675771 0.58217
NM_000283.4(PDE6B):c.915G>A (p.Thr305=) rs75695239 0.05186
NM_000283.4(PDE6B):c.*20C>A rs61760239 0.03551
NM_000283.4(PDE6B):c.*191C>A rs111449765 0.02743
NM_000283.4(PDE6B):c.143G>A (p.Arg48Gln) rs113842820 0.02573
NM_000283.4(PDE6B):c.123G>A (p.Pro41=) rs113459274 0.02570
NM_000283.4(PDE6B):c.373C>G (p.Pro125Ala) rs28414606 0.02568
NM_000283.4(PDE6B):c.384C>T (p.Ser128=) rs28510278 0.02567
NM_000283.4(PDE6B):c.2526C>T (p.Gly842=) rs61733857 0.01240
NM_000283.4(PDE6B):c.2289G>A (p.Lys763=) rs61739716 0.01153
NM_000283.4(PDE6B):c.2331C>T (p.Phe777=) rs35792756 0.01026
NM_000283.4(PDE6B):c.2505A>G (p.Val835=) rs61734864 0.00938
NM_000283.4(PDE6B):c.*414C>T rs111404897 0.00925
NM_000283.4(PDE6B):c.496G>A (p.Glu166Lys) rs115775983 0.00911
NM_000283.4(PDE6B):c.873T>C (p.Ser291=) rs142597807 0.00827
NM_000283.4(PDE6B):c.615C>T (p.Asp205=) rs149293844 0.00577
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His) rs62295357 0.00465
NM_000283.4(PDE6B):c.1635C>T (p.Phe545=) rs141813304 0.00436
NM_000283.4(PDE6B):c.270C>T (p.Asp90=) rs80344633 0.00422
NM_000283.4(PDE6B):c.1108-9C>T rs200970775 0.00373
NM_000283.4(PDE6B):c.1060-13G>A rs147482093 0.00365
NM_000283.4(PDE6B):c.711+10C>T rs201100689 0.00237
NM_000283.4(PDE6B):c.*474C>G rs577140751 0.00180
NM_000283.4(PDE6B):c.145G>T (p.Asp49Tyr) rs79826315 0.00091
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00079
NM_000283.4(PDE6B):c.1401+4C>T rs113246945 0.00077
NM_000283.4(PDE6B):c.1083C>T (p.Ser361=) rs142802752 0.00073
NM_000283.4(PDE6B):c.852+12G>A rs201676629 0.00070
NM_000283.4(PDE6B):c.1218C>T (p.Asp406=) rs148190219 0.00061
NM_000283.4(PDE6B):c.2470A>G (p.Lys824Glu) rs138682290 0.00056
NM_000283.4(PDE6B):c.1296C>T (p.Thr432=) rs114100439 0.00048
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000283.4(PDE6B):c.2352+3G>A rs111504036 0.00033
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_000283.4(PDE6B):c.966C>T (p.His322=) rs143711050 0.00032
NM_000283.4(PDE6B):c.2504-1G>C rs201870319 0.00029
NM_000283.4(PDE6B):c.*545T>C rs149186081 0.00024
NM_000283.4(PDE6B):c.*271G>A rs552530901 0.00023
NM_000283.4(PDE6B):c.1805G>A (p.Arg602His) rs752846577 0.00019
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00018
NM_000283.4(PDE6B):c.1414C>T (p.Arg472Cys) rs143908642 0.00016
NM_000283.4(PDE6B):c.170C>T (p.Thr57Met) rs149359860 0.00016
NM_000283.4(PDE6B):c.1920+4G>A rs370313003 0.00015
NM_000283.4(PDE6B):c.133G>A (p.Asp45Asn) rs138423108 0.00013
NM_000283.4(PDE6B):c.2293G>C (p.Ala765Pro) rs199521106 0.00011
NM_000283.4(PDE6B):c.*309T>A rs559243245 0.00010
NM_000283.4(PDE6B):c.*504A>G rs886059550 0.00010
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000283.4(PDE6B):c.2193+5G>A rs576895229 0.00009
NM_000283.4(PDE6B):c.2326G>A (p.Asp776Asn) rs141563823 0.00009
NM_000283.4(PDE6B):c.967G>A (p.Gly323Ser) rs140224236 0.00009
NM_000283.4(PDE6B):c.2269-11C>T rs370169775 0.00008
NM_000283.4(PDE6B):c.787A>G (p.Thr263Ala) rs761281062 0.00007
NM_000283.4(PDE6B):c.926G>A (p.Arg309Gln) rs145756948 0.00007
NM_000283.3(PDE6B):c.*764G>A rs575639886 0.00006
NM_000283.4(PDE6B):c.*611G>A rs1374125665 0.00006
NM_000283.4(PDE6B):c.1506C>T (p.Tyr502=) rs750323428 0.00006
NM_000283.4(PDE6B):c.2098T>A (p.Ser700Thr) rs149880099 0.00006
NM_000283.4(PDE6B):c.344C>T (p.Pro115Leu) rs189172362 0.00006
NM_000283.4(PDE6B):c.59G>A (p.Arg20His) rs781251175 0.00006
NM_000283.4(PDE6B):c.682C>A (p.Leu228Ile) rs201584824 0.00006
NM_000283.4(PDE6B):c.699G>A (p.Thr233=) rs148264146 0.00006
NM_000283.4(PDE6B):c.892C>T (p.Gln298Ter) rs121918579 0.00006
NM_000283.3(PDE6B):c.*797G>A rs1463865281 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.*381C>T rs1023673457 0.00004
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_000283.4(PDE6B):c.698C>T (p.Thr233Met) rs752852029 0.00004
NM_000283.4(PDE6B):c.789G>A (p.Thr263=) rs138789637 0.00004
NM_000283.4(PDE6B):c.1107+3A>G rs370898371 0.00003
NM_000283.4(PDE6B):c.132C>G (p.Cys44Trp) rs199974771 0.00003
NM_000283.4(PDE6B):c.1426G>A (p.Glu476Lys) rs746783836 0.00003
NM_000283.4(PDE6B):c.1669C>T (p.His557Tyr) rs121918581 0.00003
NM_000283.4(PDE6B):c.1954C>T (p.Gln652Ter) rs373037737 0.00003
NM_000283.4(PDE6B):c.285C>T (p.Phe95=) rs746211772 0.00003
NM_000283.4(PDE6B):c.299G>A (p.Arg100His) rs555600300 0.00003
NM_000283.4(PDE6B):c.387G>T (p.Glu129Asp) rs752303143 0.00003
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1703C>T (p.Thr568Met) rs369980987 0.00002
NM_000283.4(PDE6B):c.1779C>T (p.Ala593=) rs769147926 0.00002
NM_000283.4(PDE6B):c.1879C>G (p.Arg627Gly) rs371911345 0.00002
NM_000283.4(PDE6B):c.1A>G (p.Met1Val) rs781003757 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000283.4(PDE6B):c.258C>T (p.Leu86=) rs886059520 0.00002
NM_000283.4(PDE6B):c.297G>A (p.Gln99=) rs768652560 0.00002
NM_000283.4(PDE6B):c.313G>A (p.Glu105Lys) rs398123299 0.00002
NM_000283.4(PDE6B):c.316C>T (p.Leu106=) rs752429712 0.00002
NM_000283.4(PDE6B):c.469-5G>A rs530695084 0.00002
NM_000283.3(PDE6B):c.*692G>A rs1444528398 0.00001
NM_000283.4(PDE6B):c.*187G>A rs1014159767 0.00001
NM_000283.4(PDE6B):c.*215A>G rs1040628827 0.00001
NM_000283.4(PDE6B):c.*21C>T rs371005251 0.00001
NM_000283.4(PDE6B):c.*279G>A rs886059548 0.00001
NM_000283.4(PDE6B):c.*79A>G rs753277194 0.00001
NM_000283.4(PDE6B):c.109G>A (p.Glu37Lys) rs376908835 0.00001
NM_000283.4(PDE6B):c.1108-2A>G rs1316718953 0.00001
NM_000283.4(PDE6B):c.1459G>A (p.Glu487Lys) rs139369984 0.00001
NM_000283.4(PDE6B):c.1467+1G>C rs527236089 0.00001
NM_000283.4(PDE6B):c.1590C>T (p.Val530=) rs202244041 0.00001
NM_000283.4(PDE6B):c.1604T>A (p.Ile535Asn) rs527236088 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.1945A>G (p.Asn649Asp) rs768939011 0.00001
NM_000283.4(PDE6B):c.1996G>A (p.Ala666Thr) rs779474710 0.00001
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=) rs886059545 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.385G>A (p.Glu129Lys) rs749657417 0.00001
NM_000283.4(PDE6B):c.409G>A (p.Gly137Arg) rs781658083 0.00001
NM_000283.4(PDE6B):c.482G>A (p.Ser161Asn) rs574098823 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr) rs886059543 0.00001
NM_000283.4(PDE6B):c.*115T>A rs1194338211
NM_000283.4(PDE6B):c.*390T>C rs886059549
NM_000283.4(PDE6B):c.*561C>T rs886059551
NM_000283.4(PDE6B):c.*592A>G rs886059552
NM_000283.4(PDE6B):c.*626T>C rs886059553
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=) rs754298712
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) rs1208473466
NM_000283.4(PDE6B):c.117G>T (p.Gly39=) rs140538420
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=) rs1736347354
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1417del (p.Leu473fs) rs1577288305
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1576G>A (p.Glu526Lys) rs527236091
NM_000283.4(PDE6B):c.1592G>A (p.Arg531Gln) rs144664551
NM_000283.4(PDE6B):c.1654del (p.Arg552fs) rs1577296602
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.177_248dup (p.Leu60_Leu83dup) rs1734061767
NM_000283.4(PDE6B):c.1781G>T (p.Gly594Val) rs766049601
NM_000283.4(PDE6B):c.1804C>A (p.Arg602Ser) rs754298498
NM_000283.4(PDE6B):c.1811C>G (p.Thr604Ser) rs752738349
NM_000283.4(PDE6B):c.1832+1G>T rs370758397
NM_000283.4(PDE6B):c.1833-3C>G rs1241323917
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.2021+2T>G rs1577301589
NM_000283.4(PDE6B):c.2073C>T (p.Asp691=) rs886059544
NM_000283.4(PDE6B):c.207dup (p.Ile70fs) rs750147338
NM_000283.4(PDE6B):c.2129+9G>C rs753943492
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu) rs886059546
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2269-7C>T rs1268705787
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
NM_000283.4(PDE6B):c.483C>T (p.Ser161=) rs886059526
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer) rs1470086286
NM_000283.4(PDE6B):c.711+12C>T rs886059527
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.853-9T>C rs886059542
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala) rs1736021671
NM_000283.4(PDE6B):c.993-1G>C rs527236090

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