ClinVar Miner

List of variants in gene PDE6B studied for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 325
Download table as spreadsheet
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.101C>T (p.Ala34Val) rs148829093 0.00434
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.2371G>A (p.Glu791Lys) rs74411086 0.00198
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.804C>T (p.Leu268=) rs147372374 0.00047
NM_000283.4(PDE6B):c.220C>T (p.Arg74Cys) rs144590560 0.00046
NM_000283.4(PDE6B):c.651G>A (p.Thr217=) rs200664252 0.00041
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.1860del (p.His620fs) rs769671323 0.00021
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.1540del (p.Leu514fs) rs398123298 0.00011
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.1553A>T (p.Lys518Ile) rs369561957 0.00010
NM_000283.4(PDE6B):c.1923C>T (p.Thr641=) rs1162577076 0.00010
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs) rs1325957874 0.00010
NM_000283.4(PDE6B):c.2352+14G>A rs752968664 0.00010
NM_000283.4(PDE6B):c.2363G>A (p.Arg788His) rs777999727 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.726G>A (p.Ser242=) rs200975847 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.700C>T (p.Arg234Cys) rs374915809 0.00008
NM_000283.4(PDE6B):c.1219G>A (p.Gly407Arg) rs60635284 0.00007
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.1798G>A (p.Asp600Asn) rs764605140 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.811G>A (p.Glu271Lys) rs374156343 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.1606C>T (p.Pro536Ser) rs568331063 0.00005
NM_000283.4(PDE6B):c.2116A>T (p.Lys706Ter) rs746552548 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000283.4(PDE6B):c.592G>A (p.Gly198Ser) rs199690401 0.00005
NM_000283.4(PDE6B):c.*381C>T rs1023673457 0.00004
NM_000283.4(PDE6B):c.1685G>A (p.Gly562Asp) rs774268095 0.00004
NM_000283.4(PDE6B):c.1804C>T (p.Arg602Cys) rs754298498 0.00004
NM_000283.4(PDE6B):c.204G>C (p.Glu68Asp) rs200079698 0.00004
NM_000283.4(PDE6B):c.2150G>A (p.Cys717Tyr) rs142936195 0.00004
NM_000283.4(PDE6B):c.2274G>C (p.Met758Ile) rs140857147 0.00004
NM_000283.4(PDE6B):c.2281C>T (p.Arg761Trp) rs756653121 0.00004
NM_000283.4(PDE6B):c.307G>A (p.Val103Met) rs751477149 0.00004
NM_000283.4(PDE6B):c.379G>A (p.Asp127Asn) rs766141814 0.00004
NM_000283.4(PDE6B):c.559G>A (p.Val187Met) rs138615156 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.2409T>C (p.Asn803=) rs200002559 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.704G>A (p.Arg235His) rs757918699 0.00003
NM_000283.4(PDE6B):c.1297G>A (p.Asp433Asn) rs539768252 0.00002
NM_000283.4(PDE6B):c.1342G>A (p.Ala448Thr) rs779139841 0.00002
NM_000283.4(PDE6B):c.1366G>A (p.Val456Met) rs376028657 0.00002
NM_000283.4(PDE6B):c.1575C>T (p.Tyr525=) rs373724992 0.00002
NM_000283.4(PDE6B):c.1580T>C (p.Leu527Pro) rs760766981 0.00002
NM_000283.4(PDE6B):c.1591C>T (p.Arg531Ter) rs121918580 0.00002
NM_000283.4(PDE6B):c.1654C>T (p.Arg552Trp) rs1201231261 0.00002
NM_000283.4(PDE6B):c.1655G>A (p.Arg552Gln) rs751859807 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.2206G>A (p.Val736Met) rs779518964 0.00002
NM_000283.4(PDE6B):c.2332G>A (p.Val778Met) rs775321796 0.00002
NM_000283.4(PDE6B):c.2352+13C>T rs374527841 0.00002
NM_000283.4(PDE6B):c.2387T>C (p.Met796Thr) rs745856717 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_000283.4(PDE6B):c.694G>A (p.Glu232Lys) rs201593198 0.00002
NM_000283.4(PDE6B):c.992+1G>A rs898144119 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.1243G>A (p.Glu415Lys) rs750599200 0.00001
NM_000283.4(PDE6B):c.1351A>G (p.Met451Val) rs375564041 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.1624C>T (p.Arg542Trp) rs760042062 0.00001
NM_000283.4(PDE6B):c.1667A>G (p.Tyr556Cys) rs755577875 0.00001
NM_000283.4(PDE6B):c.1678C>T (p.Arg560Cys) rs201541131 0.00001
NM_000283.4(PDE6B):c.1682A>G (p.His561Arg) rs1305333312 0.00001
NM_000283.4(PDE6B):c.1699C>T (p.Gln567Ter) rs772057239 0.00001
NM_000283.4(PDE6B):c.1712C>T (p.Thr571Met) rs761619791 0.00001
NM_000283.4(PDE6B):c.1726G>A (p.Gly576Ser) rs753925314 0.00001
NM_000283.4(PDE6B):c.1811C>T (p.Thr604Ile) rs752738349 0.00001
NM_000283.4(PDE6B):c.181G>T (p.Glu61Ter) rs767438881 0.00001
NM_000283.4(PDE6B):c.1859A>G (p.His620Arg) rs1737315492 0.00001
NM_000283.4(PDE6B):c.1895T>C (p.Phe632Ser) rs773420808 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.2039A>G (p.Gln680Arg) rs1432322807 0.00001
NM_000283.4(PDE6B):c.2091G>A (p.Glu697=) rs886059545 0.00001
NM_000283.4(PDE6B):c.2114G>A (p.Arg705Gln) rs200397909 0.00001
NM_000283.4(PDE6B):c.2140A>T (p.Met714Leu) rs751413984 0.00001
NM_000283.4(PDE6B):c.2419T>C (p.Trp807Arg) rs121918583 0.00001
NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter) rs970768801 0.00001
NM_000283.4(PDE6B):c.291C>A (p.Tyr97Ter) rs876657718 0.00001
NM_000283.4(PDE6B):c.293G>A (p.Arg98His) rs776050413 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.485C>T (p.Ser162Leu) rs772012465 0.00001
NM_000283.4(PDE6B):c.739T>A (p.Phe247Ile) rs780521818 0.00001
NM_000283.4(PDE6B):c.800A>T (p.Tyr267Phe) rs190999087 0.00001
NM_000283.4(PDE6B):c.815G>A (p.Arg272Gln) rs760089278 0.00001
NM_000283.4(PDE6B):c.837del (p.Asp279fs) rs746141070 0.00001
NM_000283.4(PDE6B):c.925C>T (p.Arg309Trp) rs764673374 0.00001
NM_000283.4(PDE6B):c.932T>C (p.Ile311Thr) rs886059543 0.00001
NC_000004.12:g.(634830_635879)_(670108_?)del
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.1005C>T (p.Ala335=)
NM_000283.4(PDE6B):c.1026C>T (p.Ser342=) rs754298712
NM_000283.4(PDE6B):c.1031T>C (p.Leu344Pro)
NM_000283.4(PDE6B):c.1041_1042dup (p.Val348fs) rs1560121685
NM_000283.4(PDE6B):c.1060-1G>T rs863223339
NM_000283.4(PDE6B):c.1066A>G (p.Asn356Asp) rs1736225856
NM_000283.4(PDE6B):c.1070T>A (p.Ile357Asn)
NM_000283.4(PDE6B):c.1107+219G>A
NM_000283.4(PDE6B):c.1107+2dup rs1560122302
NM_000283.4(PDE6B):c.110A>G (p.Glu37Gly) rs1208473466
NM_000283.4(PDE6B):c.1160C>T (p.Pro387Leu) rs1392709495
NM_000283.4(PDE6B):c.1161dup (p.Ile388fs) rs1736334634
NM_000283.4(PDE6B):c.117G>T (p.Gly39=) rs140538420
NM_000283.4(PDE6B):c.1226C>G (p.Pro409Arg) rs1736345541
NM_000283.4(PDE6B):c.1229T>C (p.Phe410Ser)
NM_000283.4(PDE6B):c.1239G>A (p.Gln413=) rs1736347354
NM_000283.4(PDE6B):c.1242C>G (p.Asp414Glu)
NM_000283.4(PDE6B):c.1257+1_1257+13del
NM_000283.4(PDE6B):c.1258-2A>G rs1736402440
NM_000283.4(PDE6B):c.1268A>C (p.Gln423Pro)
NM_000283.4(PDE6B):c.1390C>T (p.Gln464Ter) rs1736425011
NM_000283.4(PDE6B):c.1401+2T>G rs1736426982
NM_000283.4(PDE6B):c.1401+4_1401+48del rs768567008
NM_000283.4(PDE6B):c.1403C>T (p.Pro468Leu) rs1420482878
NM_000283.4(PDE6B):c.1417del (p.Leu473fs) rs1577288305
NM_000283.4(PDE6B):c.1429C>A (p.Pro477Thr) rs978566517
NM_000283.4(PDE6B):c.1434T>C (p.Ala478=)
NM_000283.4(PDE6B):c.1454T>C (p.Leu485Pro)
NM_000283.4(PDE6B):c.1468-2A>G rs763371769
NM_000283.4(PDE6B):c.1485dup (p.Pro496fs) rs1360937549
NM_000283.4(PDE6B):c.1488del (p.Thr497fs) rs730880317
NM_000283.4(PDE6B):c.1541T>C (p.Leu514Pro)
NM_000283.4(PDE6B):c.1547T>C (p.Leu516Pro) rs1553812554
NM_000283.4(PDE6B):c.1568T>G (p.Met523Arg)
NM_000283.4(PDE6B):c.1569G>T (p.Met523Ile)
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.1670A>G (p.His557Arg) rs536742386
NM_000283.4(PDE6B):c.1684G>A (p.Gly562Ser)
NM_000283.4(PDE6B):c.169_239dup (p.Leu83fs) rs1553801591
NM_000283.4(PDE6B):c.1709T>C (p.Phe570Ser)
NM_000283.4(PDE6B):c.1742A>G (p.Tyr581Cys) rs1263635426
NM_000283.4(PDE6B):c.1744T>C (p.Tyr582His) rs1737229618
NM_000283.4(PDE6B):c.1748C>T (p.Thr583Met)
NM_000283.4(PDE6B):c.1775C>T (p.Thr592Ile) rs747684283
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.1807G>A (p.Gly603Ser)
NM_000283.4(PDE6B):c.1810A>T (p.Thr604Ser) rs1737239664
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.1837del (p.Gln613fs)
NM_000283.4(PDE6B):c.1841dup (p.Asn614fs) rs747970185
NM_000283.4(PDE6B):c.1860C>A (p.His620Gln) rs371908618
NM_000283.4(PDE6B):c.1876G>T (p.Glu626Ter) rs758052437
NM_000283.4(PDE6B):c.1896T>C (p.Phe632=) rs1737323722
NM_000283.4(PDE6B):c.1914G>A (p.Ser638=)
NM_000283.4(PDE6B):c.1920+2T>G
NM_000283.4(PDE6B):c.1921-20_1921-3del
NM_000283.4(PDE6B):c.1921-9C>G rs1577301137
NM_000283.4(PDE6B):c.1923_1969delinsTCTGGG (p.Asn643fs) rs869312177
NM_000283.4(PDE6B):c.1923_1971delinsTCTGGGTA (p.Asn643fs) rs1560134806
NM_000283.4(PDE6B):c.1927_1967del (p.Asn643fs) rs1296042817
NM_000283.4(PDE6B):c.1927_1969delinsGG (p.Asn643fs) rs1737428529
NM_000283.4(PDE6B):c.1935C>A (p.Tyr645Ter) rs1737429976
NM_000283.4(PDE6B):c.1969A>G (p.Ile657Val)
NM_000283.4(PDE6B):c.2003A>G (p.Asp668Gly) rs1737442897
NM_000283.4(PDE6B):c.2019dup (p.Lys674fs)
NM_000283.4(PDE6B):c.2021+2T>C
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.2115_2116delinsAT (p.Lys706Ter) rs1737503567
NM_000283.4(PDE6B):c.2117A>T (p.Lys706Met)
NM_000283.4(PDE6B):c.2129+9G>C rs753943492
NM_000283.4(PDE6B):c.213C>T (p.Asn71=)
NM_000283.4(PDE6B):c.2152G>A (p.Asp718Asn) rs150639487
NM_000283.4(PDE6B):c.2152G>T (p.Asp718Tyr) rs150639487
NM_000283.4(PDE6B):c.2170A>C (p.Lys724Gln)
NM_000283.4(PDE6B):c.2174C>T (p.Pro725Leu) rs886059546
NM_000283.4(PDE6B):c.2193+1G>A rs727504075
NM_000283.4(PDE6B):c.2193G>A (p.Lys731=)
NM_000283.4(PDE6B):c.221G>T (p.Arg74Leu)
NM_000283.4(PDE6B):c.221dup (p.Val75fs) rs1734066308
NM_000283.4(PDE6B):c.222dup (p.Val75fs) rs1734066547
NM_000283.4(PDE6B):c.2258A>C (p.Gln753Pro)
NM_000283.4(PDE6B):c.2269-7C>T rs1268705787
NM_000283.4(PDE6B):c.2315T>G (p.Val772Gly)
NM_000283.4(PDE6B):c.2353-13C>T rs369466418
NM_000283.4(PDE6B):c.2353-18_2354del rs1174120641
NM_000283.4(PDE6B):c.2353-2A>T
NM_000283.4(PDE6B):c.2353-7_2353-3del rs1737974000
NM_000283.4(PDE6B):c.2396G>C (p.Arg799Pro) rs546425862
NM_000283.4(PDE6B):c.2407A>G (p.Asn803Asp) rs771338607
NM_000283.4(PDE6B):c.2419T>A (p.Trp807Arg) rs121918583
NM_000283.4(PDE6B):c.241del (p.Arg81fs)
NM_000283.4(PDE6B):c.2427_2428dup (p.Leu810fs) rs2109284029
NM_000283.4(PDE6B):c.2429T>C (p.Leu810Pro) rs1737988951
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter) rs1577311264
NM_000283.4(PDE6B):c.245G>A (p.Arg82His)
NM_000283.4(PDE6B):c.2473GAG[3] (p.Glu828del) rs777568669
NM_000283.4(PDE6B):c.2486G>C (p.Arg829Thr)
NM_000283.4(PDE6B):c.2510C>G (p.Thr837Arg)
NM_000283.4(PDE6B):c.2531C>G (p.Pro844Arg)
NM_000283.4(PDE6B):c.293G>C (p.Arg98Pro)
NM_000283.4(PDE6B):c.298C>T (p.Arg100Cys) rs537263212
NM_000283.4(PDE6B):c.315del (p.Glu105fs) rs1734075026
NM_000283.4(PDE6B):c.336C>T (p.Ser112=)
NM_000283.4(PDE6B):c.403G>C (p.Asp135His)
NM_000283.4(PDE6B):c.427del (p.Ala143fs)
NM_000283.4(PDE6B):c.428C>A (p.Ala143Asp) rs759382635
NM_000283.4(PDE6B):c.454G>C (p.Glu152Gln)
NM_000283.4(PDE6B):c.468G>C (p.Glu156Asp)
NM_000283.4(PDE6B):c.469-1G>A
NM_000283.4(PDE6B):c.480C>G (p.Phe160Leu)
NM_000283.4(PDE6B):c.483C>T (p.Ser161=) rs886059526
NM_000283.4(PDE6B):c.510C>G (p.Tyr170Ter) rs2109133174
NM_000283.4(PDE6B):c.537_540del (p.Pro179_Ile180insTer) rs1470086286
NM_000283.4(PDE6B):c.546T>A (p.Asn182Lys) rs368094720
NM_000283.4(PDE6B):c.551A>G (p.Lys184Arg)
NM_000283.4(PDE6B):c.556G>A (p.Val186Ile)
NM_000283.4(PDE6B):c.583A>T (p.Lys195Ter) rs1212998897
NM_000283.4(PDE6B):c.650C>G (p.Thr217Arg)
NM_000283.4(PDE6B):c.711+12C>T rs886059527
NM_000283.4(PDE6B):c.772C>A (p.His258Asn) rs121918582
NM_000283.4(PDE6B):c.774C>G (p.His258Gln) rs1735848896
NM_000283.4(PDE6B):c.785A>G (p.Tyr262Cys)
NM_000283.4(PDE6B):c.786C>G (p.Tyr262Ter)
NM_000283.4(PDE6B):c.797_798insGGTACTT (p.Tyr267fs)
NM_000283.4(PDE6B):c.803T>C (p.Leu268Pro)
NM_000283.4(PDE6B):c.810C>A (p.Cys270Ter) rs145605739
NM_000283.4(PDE6B):c.812A>G (p.Glu271Gly) rs1365261261
NM_000283.4(PDE6B):c.853-1G>A rs2109193662
NM_000283.4(PDE6B):c.853-9T>C rs886059542
NM_000283.4(PDE6B):c.861dup (p.Asp288Ter)
NM_000283.4(PDE6B):c.863_864del (p.Asp288fs) rs1412122281
NM_000283.4(PDE6B):c.886G>T (p.Glu296Ter) rs1064797304
NM_000283.4(PDE6B):c.928-9_940dup rs539992414
NM_000283.4(PDE6B):c.946G>A (p.Val316Met)
NM_000283.4(PDE6B):c.986T>C (p.Val329Ala) rs1736021671
NM_000283.4(PDE6B):c.993-1G>C rs527236090

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.