ClinVar Miner

List of variants reported as likely pathogenic for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 819
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HGVS dbSNP gnomAD frequency
NM_001321218.2(B9D1):c.473-1G>C rs73980009 0.01140
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_025114.4(CEP290):c.4813-2A>G rs369523378 0.00046
NM_017777.4(MKS1):c.496C>T (p.Arg166Trp) rs201845154 0.00034
NM_001128178.3(NPHP1):c.771+169G>T rs150520157 0.00027
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401 0.00020
NM_019892.6(INPP5E):c.844G>A (p.Gly282Arg) rs138068434 0.00018
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_001134831.2(AHI1):c.136-2A>G rs776579906 0.00011
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_015681.6(B9D1):c.151T>C (p.Ser51Pro) rs546359789 0.00011
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_001382391.1(CSPP1):c.2128+1G>A rs199791452 0.00009
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly) rs138866758 0.00009
NM_025114.4(CEP290):c.4437+1G>A rs760915898 0.00009
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter) rs142375551 0.00008
NM_001082538.3(TCTN1):c.341+1G>A rs200241085 0.00006
NM_014804.3(KIAA0753):c.810C>T (p.Tyr270=) rs752659088 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_024809.5(TCTN2):c.267+1G>A rs141752910 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_025114.4(CEP290):c.6645+1G>A rs201218801 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter) rs777215595 0.00005
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203 0.00005
NM_024809.5(TCTN2):c.1612+1G>A rs371537478 0.00005
NM_001077418.3(TMEM231):c.438+5G>C rs1472951348 0.00004
NM_001082538.3(TCTN1):c.712+1G>A rs200863258 0.00004
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
NM_001384732.1(CPLANE1):c.9046C>T (p.Arg3016Ter) rs150242262 0.00004
NM_015041.3(CLUAP1):c.338T>G (p.Met113Arg) rs768663992 0.00004
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195 0.00004
NM_017777.4(MKS1):c.190+2T>C rs375170572 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180 0.00004
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) rs771551765 0.00004
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875 0.00003
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393 0.00003
NM_001329943.3(KIAA0586):c.411-1486G>A rs982449380 0.00003
NM_001378615.1(CC2D2A):c.4652T>C (p.Leu1551Pro) rs763425007 0.00003
NM_001384732.1(CPLANE1):c.1839A>C (p.Lys613Asn) rs533310477 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_003611.3(OFD1):c.324G>A (p.Met108Ile) rs763219658 0.00003
NM_006346.4(PIBF1):c.1213C>T (p.Arg405Ter) rs751280996 0.00003
NM_015272.5(RPGRIP1L):c.1244-1G>T rs1306595038 0.00003
NM_015272.5(RPGRIP1L):c.2874+1G>C rs753075262 0.00003
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_001077418.3(TMEM231):c.247T>G (p.Trp83Gly) rs774091057 0.00002
NM_001128178.3(NPHP1):c.729-2A>G rs773781058 0.00002
NM_001134831.2(AHI1):c.3235C>T (p.Arg1079Ter) rs761732432 0.00002
NM_001134831.2(AHI1):c.533_534del (p.Glu178fs) rs759593846 0.00002
NM_001173990.3(TMEM216):c.35-2A>G rs1057517528 0.00002
NM_001308120.2(TOGARAM1):c.1112C>A (p.Ala371Asp) rs370676288 0.00002
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) rs772739103 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_001378615.1(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755 0.00002
NM_001378615.1(CC2D2A):c.4583G>A (p.Arg1528His) rs886940102 0.00002
NM_001384732.1(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.5348C>A (p.Ala1783Asp) rs200444162 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_015156.4(RCOR1):c.446-3C>T rs754404879 0.00002
NM_015272.5(RPGRIP1L):c.1329dup (p.Arg444fs) rs749987648 0.00002
NM_015272.5(RPGRIP1L):c.3220+1G>A rs969617857 0.00002
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122 0.00002
NM_017777.4(MKS1):c.1024+1G>A rs199874059 0.00002
NM_017777.4(MKS1):c.493C>T (p.Arg165Cys) rs779953982 0.00002
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1615G>A (p.Gly539Arg) rs375126841 0.00002
NM_025114.4(CEP290):c.181-1G>A rs281865190 0.00002
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727 0.00002
NM_153704.6(TMEM67):c.1844G>A (p.Cys615Tyr) rs377160954 0.00002
NM_153704.6(TMEM67):c.2122G>A (p.Ala708Thr) rs149475825 0.00002
NM_001044385.3(TMEM237):c.136+1G>T rs778823927 0.00001
NM_001082538.3(TCTN1):c.1104+1G>C rs756402483 0.00001
NM_001082538.3(TCTN1):c.713-2A>G rs2066444872 0.00001
NM_001128178.3(NPHP1):c.143+1G>C rs745806504 0.00001
NM_001128178.3(NPHP1):c.1886G>A (p.Trp629Ter) rs1311042980 0.00001
NM_001128178.3(NPHP1):c.329+1G>A rs376974221 0.00001
NM_001128178.3(NPHP1):c.415G>T (p.Glu139Ter) rs1349732291 0.00001
NM_001128178.3(NPHP1):c.643G>T (p.Glu215Ter) rs753517219 0.00001
NM_001134831.2(AHI1):c.1483C>T (p.Arg495Cys) rs891261493 0.00001
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro) rs1785745572 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2266G>T (p.Gly756Cys) rs376754552 0.00001
NM_001134831.2(AHI1):c.2582G>A (p.Gly861Glu) rs1217172210 0.00001
NM_001134831.2(AHI1):c.484C>T (p.Gln162Ter) rs1270654737 0.00001
NM_001173990.3(TMEM216):c.191del (p.Leu64fs) rs1858737558 0.00001
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456 0.00001
NM_001173990.3(TMEM216):c.222del (p.Phe76fs) rs1057517512 0.00001
NM_001173990.3(TMEM216):c.34+2T>C rs1057517498 0.00001
NM_001174150.2(ARL13B):c.689+2T>G rs761785586 0.00001
NM_001329943.3(KIAA0586):c.1885-2A>G rs1431898844 0.00001
NM_001329943.3(KIAA0586):c.2944+4A>C rs372841738 0.00001
NM_001329943.3(KIAA0586):c.3781+2T>C rs1331480187 0.00001
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) rs1566903524 0.00001
NM_001329943.3(KIAA0586):c.4324-2A>G rs763815640 0.00001
NM_001352754.2(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312 0.00001
NM_001352754.2(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931 0.00001
NM_001352754.2(ARMC9):c.879G>A (p.Thr293=) rs766572502 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001378615.1(CC2D2A):c.2486+1G>C rs386833747 0.00001
NM_001378615.1(CC2D2A):c.2625G>A (p.Ser875=) rs765873247 0.00001
NM_001378615.1(CC2D2A):c.3594+5G>A rs863225181 0.00001
NM_001378615.1(CC2D2A):c.438+1G>A rs1453265480 0.00001
NM_001378615.1(CC2D2A):c.4786G>A (p.Ala1596Thr) rs780190318 0.00001
NM_001382391.1(CSPP1):c.1497-2A>C rs766633448 0.00001
NM_001384732.1(CPLANE1):c.1828C>T (p.Gln610Ter) rs1200574734 0.00001
NM_001384732.1(CPLANE1):c.1877del (p.Ser626fs) rs1327245073 0.00001
NM_001384732.1(CPLANE1):c.2563C>T (p.Gln855Ter) rs1285358729 0.00001
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092 0.00001
NM_001384732.1(CPLANE1):c.3673-1G>C rs886041688 0.00001
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg) rs869312898 0.00001
NM_001384732.1(CPLANE1):c.4155dup (p.Leu1386fs) rs1398880084 0.00001
NM_001384732.1(CPLANE1):c.4482-1G>T rs774492992 0.00001
NM_001384732.1(CPLANE1):c.8858G>A (p.Trp2953Ter) rs1482303814 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 0.00001
NM_006346.4(PIBF1):c.1133A>C (p.His378Pro) rs147863910 0.00001
NM_014704.4(CEP104):c.49del (p.Asp17fs) rs1334483830 0.00001
NM_015041.3(CLUAP1):c.688C>T (p.Arg230Ter) rs769705065 0.00001
NM_015272.5(RPGRIP1L):c.1372G>T (p.Glu458Ter) rs776941281 0.00001
NM_015272.5(RPGRIP1L):c.1700-1G>A rs1057520790 0.00001
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter) rs745413543 0.00001
NM_015272.5(RPGRIP1L):c.2093T>G (p.Leu698Ter) rs201081228 0.00001
NM_015272.5(RPGRIP1L):c.230+1G>A rs786204135 0.00001
NM_015272.5(RPGRIP1L):c.2304+1G>T rs746451396 0.00001
NM_015272.5(RPGRIP1L):c.3121A>T (p.Lys1041Ter) rs1456208953 0.00001
NM_015272.5(RPGRIP1L):c.3221-2A>G rs200448428 0.00001
NM_015272.5(RPGRIP1L):c.3617-2A>G rs781683750 0.00001
NM_015272.5(RPGRIP1L):c.71dup (p.Met24fs) rs990678342 0.00001
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter) rs993394322 0.00001
NM_015272.5(RPGRIP1L):c.776+1G>A rs771226563 0.00001
NM_015631.6(TCTN3):c.1203+1G>C rs1221992171 0.00001
NM_015631.6(TCTN3):c.627+1G>A rs1566074908 0.00001
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln) rs778260923 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_017777.4(MKS1):c.1095+1G>A rs747740477 0.00001
NM_017777.4(MKS1):c.1096-1G>C rs1401015954 0.00001
NM_017777.4(MKS1):c.1208C>T (p.Ser403Leu) rs773684291 0.00001
NM_017777.4(MKS1):c.508C>T (p.Arg170Ter) rs756853299 0.00001
NM_017777.4(MKS1):c.515+1G>A rs201933838 0.00001
NM_017777.4(MKS1):c.51_55dup (p.Asp19fs) rs386834051 0.00001
NM_017777.4(MKS1):c.81-1G>A rs12942386 0.00001
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter) rs797045706 0.00001
NM_018718.3(CEP41):c.278-1G>A rs1796956272 0.00001
NM_018718.3(CEP41):c.942_943del (p.Glu315fs) rs1584867379 0.00001
NM_019892.6(INPP5E):c.1052G>A (p.Arg351His) rs775094328 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_019892.6(INPP5E):c.1670G>A (p.Arg557His) rs992814593 0.00001
NM_019892.6(INPP5E):c.1790C>T (p.Pro597Leu) rs760790290 0.00001
NM_024809.5(TCTN2):c.988C>T (p.Arg330Ter) rs754596743 0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_025114.4(CEP290):c.1190-2A>G rs200818935 0.00001
NM_025114.4(CEP290):c.1711+1G>A rs587783009 0.00001
NM_025114.4(CEP290):c.1712-2A>T rs764551108 0.00001
NM_025114.4(CEP290):c.181-2A>G rs886042359 0.00001
NM_025114.4(CEP290):c.2T>A (p.Met1Lys) rs368984997 0.00001
NM_025114.4(CEP290):c.3309+2T>C rs1007902545 0.00001
NM_025114.4(CEP290):c.5012+2T>C rs1369768287 0.00001
NM_025114.4(CEP290):c.6358-1G>A rs766670248 0.00001
NM_025114.4(CEP290):c.7324G>T (p.Glu2442Ter) rs1374014119 0.00001
NM_153704.6(TMEM67):c.1322G>A (p.Arg441His) rs386834183 0.00001
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) rs749435317 0.00001
NM_153704.6(TMEM67):c.1646G>A (p.Arg549His) rs768457119 0.00001
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) rs1281778614 0.00001
NM_153704.6(TMEM67):c.2322+2dup rs386834192 0.00001
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) rs797046045 0.00001
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) rs770605718 0.00001
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) rs863225227 0.00001
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) rs769957689 0.00001
GRCh37/hg19 6q23.3(chr6:135715893-135732702)
NC_000004.11:g.(?_15478346)_(15482422_?)del
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000006.11:g.(?_135679250)_(135679345_?)dup
NC_000006.12:g.(?_135394756)_(135411564_?)del
NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
NC_000008.10:g.(?_68018120)_(68071392_?)dup
NC_000008.10:g.(?_68024187)_(68044335_?)dup
NC_000011.10:g.(?_61393874)_(61398286_?)del
NC_000012.11:g.(?_111079754)_(111082915_?)del
NC_000012.11:g.(?_88447419)_(88448200_?)dup
NC_000012.11:g.(?_88465051)_(88508979_?)dup
NC_000014.8:g.(?_58896061)_(58899195_?)dup
NC_000014.8:g.(?_58910652)_(58917484_?)dup
NC_000014.8:g.(?_58949211)_(58949450_?)dup
NC_000014.8:g.(?_58951496)_(58953792_?)del
NC_000014.9:g.(?_58448320)_(58450766_?)dup
NC_000016.10:g.(?_53656472)_(53687965_?)del
NC_000016.9:g.(?_53672132)_(53679723_?)del
NC_000016.9:g.(?_53720335)_(53721887_?)dup
NC_000016.9:g.(?_53721798)_(53724290_?)del
NC_000016.9:g.(?_53729213)_(53730217_?)dup
NC_000016.9:g.(?_75575228)_(75579413_?)dup
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.137-2A>G
NM_001044385.3(TMEM237):c.396-2A>G
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001044385.3(TMEM237):c.676A>G (p.Arg226Gly) rs2105899169
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001077418.3(TMEM231):c.140-30A>C rs2080806593
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.439-33_538del
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
NM_001082538.3(TCTN1):c.1104+2T>C
NM_001082538.3(TCTN1):c.1332-1G>C
NM_001082538.3(TCTN1):c.1494+1G>A rs1165243207
NM_001082538.3(TCTN1):c.1495-2A>G
NM_001082538.3(TCTN1):c.1635+1G>A
NM_001082538.3(TCTN1):c.262G>A (p.Asp88Asn)
NM_001082538.3(TCTN1):c.472+1G>C
NM_001082538.3(TCTN1):c.580del (p.Ser194fs) rs2136006298
NM_001082538.3(TCTN1):c.638T>A (p.Leu213Gln) rs2066300090
NM_001128178.3(NPHP1):c.1064_1067del (p.Cys355fs)
NM_001128178.3(NPHP1):c.1083+1G>A
NM_001128178.3(NPHP1):c.1084-2A>C
NM_001128178.3(NPHP1):c.1157del (p.Gln386fs)
NM_001128178.3(NPHP1):c.1190del (p.Gly397fs)
NM_001128178.3(NPHP1):c.1270-2A>G
NM_001128178.3(NPHP1):c.1271C>G (p.Ser424Ter)
NM_001128178.3(NPHP1):c.127C>T (p.Gln43Ter)
NM_001128178.3(NPHP1):c.1305G>A (p.Trp435Ter)
NM_001128178.3(NPHP1):c.1323del (p.Phe441fs)
NM_001128178.3(NPHP1):c.1352+2T>G
NM_001128178.3(NPHP1):c.1379dup (p.Thr461fs) rs2104483923
NM_001128178.3(NPHP1):c.139C>T (p.Gln47Ter)
NM_001128178.3(NPHP1):c.141_143+40del
NM_001128178.3(NPHP1):c.1431_1432insTACCA (p.His478fs)
NM_001128178.3(NPHP1):c.144-1G>A
NM_001128178.3(NPHP1):c.151C>T (p.Gln51Ter)
NM_001128178.3(NPHP1):c.1643-1G>C
NM_001128178.3(NPHP1):c.1643-2A>G
NM_001128178.3(NPHP1):c.1717-1dup
NM_001128178.3(NPHP1):c.1724G>A (p.Trp575Ter)
NM_001128178.3(NPHP1):c.1767_1770del (p.Asp589fs)
NM_001128178.3(NPHP1):c.1897_1906del (p.Thr633fs)
NM_001128178.3(NPHP1):c.483del (p.Asp162fs) rs1410236296
NM_001128178.3(NPHP1):c.69+1G>T
NM_001128178.3(NPHP1):c.69+1del
NM_001128178.3(NPHP1):c.724C>T (p.Gln242Ter)
NM_001128178.3(NPHP1):c.738_739del (p.His247fs)
NM_001128178.3(NPHP1):c.771+124C>T
NM_001128178.3(NPHP1):c.771+58C>T
NM_001128178.3(NPHP1):c.842C>G (p.Ser281Ter)
NM_001128178.3(NPHP1):c.935G>A (p.Trp312Ter)
NM_001128178.3(NPHP1):c.958del (p.Arg320fs)
NM_001134831.2(AHI1):c.1094dup (p.Met365fs) rs2128081478
NM_001134831.2(AHI1):c.11-1G>C
NM_001134831.2(AHI1):c.1148A>G (p.Asp383Gly) rs1789162289
NM_001134831.2(AHI1):c.1151+1G>A rs2128081334
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1270del (p.Ile424fs) rs1788846426
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.136-1G>A rs2128100946
NM_001134831.2(AHI1):c.1493T>C (p.Leu498Pro) rs2128059170
NM_001134831.2(AHI1):c.1779+1G>A
NM_001134831.2(AHI1):c.1779+1G>T
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1840dup (p.Cys614fs) rs1163874095
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1913-1G>A
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2087A>G (p.His696Arg) rs797045224
NM_001134831.2(AHI1):c.2155G>C (p.Asp719His)
NM_001134831.2(AHI1):c.2167C>G (p.Arg723Gly)
NM_001134831.2(AHI1):c.2483A>C (p.Asp828Ala) rs1784406093
NM_001134831.2(AHI1):c.2492+5G>A rs2128012406
NM_001134831.2(AHI1):c.2493-1G>T
NM_001134831.2(AHI1):c.2624-2A>G
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.2760_2764+2del
NM_001134831.2(AHI1):c.2764+2T>C
NM_001134831.2(AHI1):c.2961+1G>A
NM_001134831.2(AHI1):c.2961+2T>G rs2127973751
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.2989-2A>G rs2128485171
NM_001134831.2(AHI1):c.2989-2A>T
NM_001134831.2(AHI1):c.3105_3106del (p.Gln1035fs)
NM_001134831.2(AHI1):c.3110-1G>A
NM_001134831.2(AHI1):c.3110-2A>G
NM_001134831.2(AHI1):c.3140del (p.Asn1047fs)
NM_001134831.2(AHI1):c.3166-1G>T
NM_001134831.2(AHI1):c.3426+2T>C
NM_001134831.2(AHI1):c.3427-1G>A
NM_001134831.2(AHI1):c.3486-2A>T
NM_001134831.2(AHI1):c.430del (p.Glu144fs) rs2128098409
NM_001134831.2(AHI1):c.72_85del (p.Ser24fs) rs780910490
NM_001134831.2(AHI1):c.749+1G>C rs780069818
NM_001134831.2(AHI1):c.750-1G>A
NM_001134831.2(AHI1):c.750-2A>G
NM_001134831.2(AHI1):c.932-2_932del
NM_001173990.3(TMEM216):c.112G>T (p.Glu38Ter)
NM_001173990.3(TMEM216):c.136+2T>G
NM_001173990.3(TMEM216):c.137-1G>A rs1554972547
NM_001173990.3(TMEM216):c.137-2A>C
NM_001173990.3(TMEM216):c.137-2A>G rs1858735439
NM_001173990.3(TMEM216):c.164_168del (p.Asn55fs) rs1554972556
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.222_224delinsA (p.Phe76fs)
NM_001173990.3(TMEM216):c.228del (p.Phe76fs) rs767384710
NM_001173990.3(TMEM216):c.228dup (p.Gly77fs) rs767384710
NM_001173990.3(TMEM216):c.229+1G>A rs2135191306
NM_001173990.3(TMEM216):c.229+1G>C
NM_001173990.3(TMEM216):c.229+1G>T
NM_001173990.3(TMEM216):c.230-2A>G rs1211592806
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.302_303insCATT (p.Met101fs)
NM_001173990.3(TMEM216):c.316_317insTA (p.Tyr106fs) rs1554972958
NM_001173990.3(TMEM216):c.336C>A (p.Tyr112Ter) rs147267631
NM_001173990.3(TMEM216):c.34+1G>A
NM_001173990.3(TMEM216):c.35-13_36del rs1057520085
NM_001173990.3(TMEM216):c.35-1G>A rs2135189980
NM_001173990.3(TMEM216):c.35-2_35-1insT
NM_001173990.3(TMEM216):c.67del (p.Leu23fs) rs1565088283
NM_001173990.3(TMEM216):c.86G>A (p.Trp29Ter)
NM_001174150.2(ARL13B):c.1141+1G>A
NM_001174150.2(ARL13B):c.131-1G>T rs373604132
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001258244.2(TMEM218):c.111G>T (p.Arg37Ser) rs1248550491
NM_001308120.2(TOGARAM1):c.1084C>T (p.Gln362Ter) rs1885329722
NM_001308120.2(TOGARAM1):c.1102C>T (p.Arg368Trp) rs368448387
NM_001308120.2(TOGARAM1):c.2338+3A>G
NM_001308120.2(TOGARAM1):c.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)
NM_001308120.2(TOGARAM1):c.5182C>T (p.Arg1728Ter) rs745704336
NM_001329943.3(KIAA0586):c.-29A>C rs752709426
NM_001329943.3(KIAA0586):c.1129+1G>A rs2140707466
NM_001329943.3(KIAA0586):c.1130-2A>G
NM_001329943.3(KIAA0586):c.1253+1G>A
NM_001329943.3(KIAA0586):c.1657-1G>A rs2140873364
NM_001329943.3(KIAA0586):c.1884+1G>T
NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter) rs2140886548
NM_001329943.3(KIAA0586):c.200-2A>G
NM_001329943.3(KIAA0586):c.2254+1G>T
NM_001329943.3(KIAA0586):c.2634+1G>T
NM_001329943.3(KIAA0586):c.271-1G>A
NM_001329943.3(KIAA0586):c.2825+1G>A rs2141025675
NM_001329943.3(KIAA0586):c.2945-1G>C
NM_001329943.3(KIAA0586):c.3142_3144+5del rs771240219
NM_001329943.3(KIAA0586):c.3144+1G>A
NM_001329943.3(KIAA0586):c.3144+2T>C
NM_001329943.3(KIAA0586):c.341-2A>G
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs)
NM_001329943.3(KIAA0586):c.3859-3_3865del
NM_001329943.3(KIAA0586):c.3991-1G>A
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) rs886039809
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) rs867342730
NM_001329943.3(KIAA0586):c.425del (p.Pro142fs)
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG
NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter) rs985118235
NM_001329943.3(KIAA0586):c.807+1G>T
NM_001329943.3(KIAA0586):c.887A>G (p.Tyr296Cys)
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.178-2A>C rs1248147660
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001352754.2(ARMC9):c.51+5G>T rs1114167447
NM_001375405.1(CEP120):c.50-2113_206+103del
NM_001378615.1(CC2D2A):c.1018-1G>A rs1716886666
NM_001378615.1(CC2D2A):c.123+2T>G
NM_001378615.1(CC2D2A):c.124-1G>C
NM_001378615.1(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001378615.1(CC2D2A):c.1359+1G>C
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_001378615.1(CC2D2A):c.1466+2T>C rs770219362
NM_001378615.1(CC2D2A):c.1467-1G>A
NM_001378615.1(CC2D2A):c.1608-2A>G
NM_001378615.1(CC2D2A):c.1676T>G (p.Leu559Arg) rs754221308
NM_001378615.1(CC2D2A):c.1765-1G>C
NM_001378615.1(CC2D2A):c.2004-1G>A
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp) rs763596840
NM_001378615.1(CC2D2A):c.2338+2T>C
NM_001378615.1(CC2D2A):c.247+1G>A rs765072583
NM_001378615.1(CC2D2A):c.248-1G>A rs2108998253
NM_001378615.1(CC2D2A):c.2486+1G>A
NM_001378615.1(CC2D2A):c.2774G>T (p.Arg925Leu)
NM_001378615.1(CC2D2A):c.2830-1G>A
NM_001378615.1(CC2D2A):c.2923-1G>A
NM_001378615.1(CC2D2A):c.3015-1G>C
NM_001378615.1(CC2D2A):c.3122_3123del (p.Ile1041fs) rs1560184664
NM_001378615.1(CC2D2A):c.3182+1G>A
NM_001378615.1(CC2D2A):c.3183-1G>T rs1719930798
NM_001378615.1(CC2D2A):c.3195del (p.Gln1065fs) rs2109070129
NM_001378615.1(CC2D2A):c.3211_3220del (p.Arg1071fs) rs1719933188
NM_001378615.1(CC2D2A):c.3310G>A (p.Glu1104Lys) rs2109070604
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.337-2A>C
NM_001378615.1(CC2D2A):c.3399-1G>C
NM_001378615.1(CC2D2A):c.3399-3C>A rs386833753
NM_001378615.1(CC2D2A):c.3595-1G>T
NM_001378615.1(CC2D2A):c.3929C>T (p.Pro1310Leu) rs1720595936
NM_001378615.1(CC2D2A):c.3975+1G>T
NM_001378615.1(CC2D2A):c.3975+2T>G
NM_001378615.1(CC2D2A):c.3976-3C>A rs576298659
NM_001378615.1(CC2D2A):c.4065+1G>A
NM_001378615.1(CC2D2A):c.4065+2T>C rs1179041639
NM_001378615.1(CC2D2A):c.4066-1G>A rs867390302
NM_001378615.1(CC2D2A):c.4179+1G>A rs886044295
NM_001378615.1(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_001378615.1(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001378615.1(CC2D2A):c.4303_4314+1del
NM_001378615.1(CC2D2A):c.438+1G>T rs1453265480
NM_001378615.1(CC2D2A):c.4582C>A (p.Arg1528Ser)
NM_001378615.1(CC2D2A):c.540+1G>A rs1296652053
NM_001378615.1(CC2D2A):c.585_586dup (p.Thr196fs) rs1392635342
NM_001378615.1(CC2D2A):c.717+1G>A
NM_001378615.1(CC2D2A):c.717+1G>T rs1027674181
NM_001378615.1(CC2D2A):c.814del (p.Tyr272fs)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001382391.1(CSPP1):c.-10-1G>T
NM_001382391.1(CSPP1):c.-54_-51del
NM_001382391.1(CSPP1):c.100-2A>C
NM_001382391.1(CSPP1):c.1022+1G>C
NM_001382391.1(CSPP1):c.1022+1G>T rs2129547115
NM_001382391.1(CSPP1):c.1187+1G>A
NM_001382391.1(CSPP1):c.1188-2A>G
NM_001382391.1(CSPP1):c.1828-1G>C
NM_001382391.1(CSPP1):c.2129-2A>G rs2129559034
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) rs1402669959
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) rs1827118960
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) rs2129561783
NM_001382391.1(CSPP1):c.3110-1G>A rs1064795687
NM_001382391.1(CSPP1):c.3221-1G>A
NM_001382391.1(CSPP1):c.3330+1G>C rs1045070965
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3331-2A>G rs1836992042
NM_001382391.1(CSPP1):c.483+2T>A
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) rs766020802
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1819dup (p.Tyr607fs) rs777686211
NM_001384732.1(CPLANE1):c.1985dup (p.Leu663fs) rs2150435584
NM_001384732.1(CPLANE1):c.2278C>T (p.Gln760Ter) rs762334514
NM_001384732.1(CPLANE1):c.2666C>T (p.Ala889Val) rs2150361119
NM_001384732.1(CPLANE1):c.2854_2855insCT (p.Asn952fs)
NM_001384732.1(CPLANE1):c.2937dup (p.Ile980fs) rs1561601398
NM_001384732.1(CPLANE1):c.3053dup (p.Val1019fs) rs2150128669
NM_001384732.1(CPLANE1):c.3094_3095del (p.Val1032fs)
NM_001384732.1(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_001384732.1(CPLANE1):c.3599C>A (p.Ala1200Glu) rs141153181
NM_001384732.1(CPLANE1):c.3835_3836del (p.Leu1279fs)
NM_001384732.1(CPLANE1):c.4643A>G (p.Asp1548Gly) rs759649053
NM_001384732.1(CPLANE1):c.5337del (p.Ser1780fs) rs777045246
NM_001384732.1(CPLANE1):c.5667_5668del (p.Ile1889_Asp1890insTer) rs962476553
NM_001384732.1(CPLANE1):c.5738-2A>G rs565629362
NM_001384732.1(CPLANE1):c.6114del (p.Asp2039fs)
NM_001384732.1(CPLANE1):c.6286C>T (p.Gln2096Ter) rs2150954061
NM_001384732.1(CPLANE1):c.6477del (p.Ser2160fs) rs747815682
NM_001384732.1(CPLANE1):c.7032del (p.Lys2345fs) rs1779035528
NM_001384732.1(CPLANE1):c.7533G>A (p.Lys2511=) rs753791198
NM_001384732.1(CPLANE1):c.7588+3A>G
NM_001384732.1(CPLANE1):c.767C>A (p.Ala256Asp) rs1799919744
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_001384732.1(CPLANE1):c.834+1G>A rs1581014582
NM_001384732.1(CPLANE1):c.9441dup (p.His3148fs) rs1579740974
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del) rs1797611349
NM_001384732.1(CPLANE1):c.[2854_2855insCT;3599C>T]
NM_002601.4(PDE6D):c.257del (p.Cys86fs) rs2048717087
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_003611.3(OFD1):c.1220_1221+1del
NM_003611.3(OFD1):c.1221_1221+13del rs2147016815
NM_003611.3(OFD1):c.1972A>T (p.Lys658Ter)
NM_003611.3(OFD1):c.2261-6C>G rs769923969
NM_003611.3(OFD1):c.2387+1G>A rs2047914412
NM_003611.3(OFD1):c.2388-1G>A
NM_003611.3(OFD1):c.2484dup (p.Glu829Ter) rs2147060430
NM_003611.3(OFD1):c.2600-5_2600del
NM_003611.3(OFD1):c.312+1G>T rs1569102786
NM_003611.3(OFD1):c.538GAT[1] (p.Asp181del) rs1131691889
NM_003611.3(OFD1):c.935+1G>C
NM_003611.3(OFD1):c.991C>T (p.Gln331Ter) rs1555904005
NM_006346.4(PIBF1):c.1056_1068del (p.Lys353fs)
NM_006346.4(PIBF1):c.1150_1151insCAGATTGAAAACCAACCAAGAAATTGATCAGCTTCG (p.Ile384delinsThrAspTer) rs2138204996
NM_006346.4(PIBF1):c.1669del (p.Leu557fs) rs863225214
NM_006346.4(PIBF1):c.1731-1G>A
NM_006346.4(PIBF1):c.597_598insAAGAAAGGAATCCATTAAGAAAG (p.Glu200delinsLysLysGlyIleHisTer) rs2137980593
NM_014704.4(CEP104):c.300_301del (p.Leu100_Cys101insTer) rs1484807480
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs) rs766831438
NM_014804.3(KIAA0753):c.2333T>C (p.Met778Thr)
NM_015202.5(KATNIP):c.1672C>T (p.Arg558Ter) rs757493420
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.5(KATNIP):c.274_275del (p.Phe92fs)
NM_015202.5(KATNIP):c.2959del (p.Asp987fs) rs770446723
NM_015202.5(KATNIP):c.3632-1G>C
NM_015202.5(KATNIP):c.4133+1G>A rs2144173006
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter) rs145247651
NM_015272.5(RPGRIP1L):c.1030-1G>T rs2151236867
NM_015272.5(RPGRIP1L):c.1104-2A>G
NM_015272.5(RPGRIP1L):c.1158dup (p.Val387fs) rs797045918
NM_015272.5(RPGRIP1L):c.1243+2T>G
NM_015272.5(RPGRIP1L):c.1326_1329del (p.Lys442fs) rs749987648
NM_015272.5(RPGRIP1L):c.1350+1G>A rs761435025
NM_015272.5(RPGRIP1L):c.1350+1G>T
NM_015272.5(RPGRIP1L):c.1351-2A>C
NM_015272.5(RPGRIP1L):c.1421del (p.Asn474fs) rs760952407
NM_015272.5(RPGRIP1L):c.1581+1G>A
NM_015272.5(RPGRIP1L):c.1581+2T>C
NM_015272.5(RPGRIP1L):c.1582-1G>C rs750917538
NM_015272.5(RPGRIP1L):c.1799T>G (p.Leu600Ter) rs1966902456
NM_015272.5(RPGRIP1L):c.1897T>C (p.Cys633Arg)
NM_015272.5(RPGRIP1L):c.2125C>T (p.Arg709Ter) rs1037406858
NM_015272.5(RPGRIP1L):c.2152+1G>C rs1006433886
NM_015272.5(RPGRIP1L):c.2180G>A (p.Gly727Asp) rs546150528
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter) rs767686118
NM_015272.5(RPGRIP1L):c.230+1G>T
NM_015272.5(RPGRIP1L):c.2304+1G>A
NM_015272.5(RPGRIP1L):c.2451C>G (p.Tyr817Ter) rs145807002
NM_015272.5(RPGRIP1L):c.2560C>T (p.Arg854Ter) rs770291169
NM_015272.5(RPGRIP1L):c.2683+1G>T
NM_015272.5(RPGRIP1L):c.2683+2T>C
NM_015272.5(RPGRIP1L):c.2684-1G>A rs2151060257
NM_015272.5(RPGRIP1L):c.2692_2696del (p.Glu898fs) rs1966218490
NM_015272.5(RPGRIP1L):c.2875-2A>G
NM_015272.5(RPGRIP1L):c.2891del (p.Pro964fs)
NM_015272.5(RPGRIP1L):c.2958+1G>A
NM_015272.5(RPGRIP1L):c.2958+1G>T rs2151056579
NM_015272.5(RPGRIP1L):c.2959-16_2960del
NM_015272.5(RPGRIP1L):c.2992del (p.Ile998fs) rs767018622
NM_015272.5(RPGRIP1L):c.3187G>T (p.Glu1063Ter) rs1057520162
NM_015272.5(RPGRIP1L):c.3295-2A>G rs1258182460
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs) rs797045104
NM_015272.5(RPGRIP1L):c.3432+1G>A
NM_015272.5(RPGRIP1L):c.3432+1G>T
NM_015272.5(RPGRIP1L):c.3432+2T>C
NM_015272.5(RPGRIP1L):c.3433-1G>A
NM_015272.5(RPGRIP1L):c.3433-7_3436del rs2150964847
NM_015272.5(RPGRIP1L):c.3594G>A (p.Trp1198Ter) rs1567800920
NM_015272.5(RPGRIP1L):c.3616+1G>A rs1964549409
NM_015272.5(RPGRIP1L):c.3616+2T>C
NM_015272.5(RPGRIP1L):c.3616+2del rs1964549329
NM_015272.5(RPGRIP1L):c.439C>T (p.Gln147Ter)
NM_015272.5(RPGRIP1L):c.441_529+79delinsTGCT
NM_015272.5(RPGRIP1L):c.529+1G>A
NM_015272.5(RPGRIP1L):c.530-1G>C rs2151325787
NM_015272.5(RPGRIP1L):c.599T>G (p.Leu200Ter) rs564992297
NM_015272.5(RPGRIP1L):c.632+1G>A rs1376397728
NM_015272.5(RPGRIP1L):c.632+1G>T
NM_015272.5(RPGRIP1L):c.632+2T>C rs2151325186
NM_015272.5(RPGRIP1L):c.633-1G>C rs2151318564
NM_015272.5(RPGRIP1L):c.776+1G>C
NM_015272.5(RPGRIP1L):c.776+2T>C rs2151317483
NM_015272.5(RPGRIP1L):c.85+2del
NM_015272.5(RPGRIP1L):c.883-2A>G rs1598375731
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015631.6(TCTN3):c.1529_1532dup (p.Asn512fs) rs2139731384
NM_015631.6(TCTN3):c.1A>G (p.Met1Val)
NM_015631.6(TCTN3):c.256+2_256+7del rs1224169161
NM_015631.6(TCTN3):c.276_277del (p.Cys92_Asp93delinsTer) rs553175533
NM_015631.6(TCTN3):c.737-1G>C
NM_015631.6(TCTN3):c.853-2A>G
NM_015631.6(TCTN3):c.969+2T>G
NM_015631.6(TCTN3):c.970-2A>G rs777263669
NM_015681.6(B9D1):c.342-1G>T
NM_015681.6(B9D1):c.529G>C (p.Asp177His) rs1309922077
NM_016169.4(SUFU):c.1023-2A>T rs1060501105
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
NM_017777.4(MKS1):c.1009G>T (p.Glu337Ter)
NM_017777.4(MKS1):c.1025-2A>C rs794727070
NM_017777.4(MKS1):c.1025-2A>G
NM_017777.4(MKS1):c.1032_1035del (p.Ser345fs)
NM_017777.4(MKS1):c.1071del (p.Cys358fs) rs762377424
NM_017777.4(MKS1):c.1095+2T>C rs2143756871
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1166-1G>C rs776174898
NM_017777.4(MKS1):c.1166-2A>G rs1488635637
NM_017777.4(MKS1):c.1222C>T (p.Gln408Ter) rs781423785
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1274-2A>C
NM_017777.4(MKS1):c.1383T>A (p.Tyr461Ter)
NM_017777.4(MKS1):c.1389G>T (p.Arg463=) rs773269657
NM_017777.4(MKS1):c.1394del (p.Pro465fs) rs865870355
NM_017777.4(MKS1):c.1399_1407+4del rs2143742869
NM_017777.4(MKS1):c.1407+1G>A rs1567795088
NM_017777.4(MKS1):c.1408-2A>G rs1555596943
NM_017777.4(MKS1):c.1408-2_1408-1del
NM_017777.4(MKS1):c.1411_1412delinsT (p.Glu471fs)
NM_017777.4(MKS1):c.1434_1462del (p.Arg479fs) rs1555596845
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1480C>T (p.Gln494Ter)
NM_017777.4(MKS1):c.1483C>T (p.Gln495Ter) rs2143737457
NM_017777.4(MKS1):c.1489_1490+18delinsGCTTGCACTGTCTGCAGCAG
NM_017777.4(MKS1):c.1490+1G>A rs2143737350
NM_017777.4(MKS1):c.1490+1G>T
NM_017777.4(MKS1):c.1522_1638del117 (p.Arg508_Leu546del)
NM_017777.4(MKS1):c.1589-2A>G
NM_017777.4(MKS1):c.1589-2A>T rs863225207
NM_017777.4(MKS1):c.184_190del (p.Thr62fs) rs386834046
NM_017777.4(MKS1):c.190+1G>A
NM_017777.4(MKS1):c.1A>G (p.Met1Val) rs1555601787
NM_017777.4(MKS1):c.240G>T (p.Trp80Cys) rs1114167302
NM_017777.4(MKS1):c.241C>T (p.Gln81Ter)
NM_017777.4(MKS1):c.367dup (p.Arg123fs) rs775043799
NM_017777.4(MKS1):c.435del (p.Thr146fs)
NM_017777.4(MKS1):c.515+2T>G rs1376664664
NM_017777.4(MKS1):c.516-2A>G rs2143805609
NM_017777.4(MKS1):c.528_644+12del
NM_017777.4(MKS1):c.537_538del (p.Arg180fs)
NM_017777.4(MKS1):c.632_633del (p.Gly211fs)
NM_017777.4(MKS1):c.658A>T (p.Lys220Ter) rs2143800757
NM_017777.4(MKS1):c.715_716del (p.Lys239fs)
NM_017777.4(MKS1):c.727_728del (p.Thr243fs)
NM_017777.4(MKS1):c.782G>A (p.Trp261Ter)
NM_017777.4(MKS1):c.80+2T>C rs386834052
NM_017777.4(MKS1):c.81-2A>G
NM_017777.4(MKS1):c.81-2A>T rs756709080
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.4(MKS1):c.832G>T (p.Glu278Ter)
NM_017777.4(MKS1):c.858+1G>A rs756102768
NM_017777.4(MKS1):c.859-2A>C
NM_017777.4(MKS1):c.859-2A>T
NM_017777.4(MKS1):c.946_947del (p.Asn316fs)
NM_017777.4(MKS1):c.949G>T (p.Gly317Ter)
NM_017777.4(MKS1):c.959-1G>A
NM_017777.4(MKS1):c.959-2A>G rs1273591389
NM_017777.4(MKS1):c.992del (p.Tyr331fs)
NM_018718.3(CEP41):c.757+2T>A
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.98-2A>G
NM_019892.6(INPP5E):c.1073C>T (p.Pro358Leu) rs1835755632
NM_019892.6(INPP5E):c.1156T>C (p.Ser386Pro)
NM_019892.6(INPP5E):c.1280-2A>C
NM_019892.6(INPP5E):c.1312G>A (p.Asp438Asn) rs1835733198
NM_019892.6(INPP5E):c.1368C>A (p.Asn456Lys)
NM_019892.6(INPP5E):c.1564G>C (p.Gly522Arg) rs2131605763
NM_019892.6(INPP5E):c.1740G>C (p.Lys580Asn)
NM_019892.6(INPP5E):c.1747G>T (p.Asp583Tyr) rs756888841
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
NM_019892.6(INPP5E):c.1862G>T (p.Arg621Leu) rs1588830568
NM_019892.6(INPP5E):c.1897C>T (p.Gln633Ter) rs763184652
NM_019892.6(INPP5E):c.874C>T (p.Arg292Cys)
NM_023073.3(CPLANE1):c.[2080A>G];[6968A>C]
NM_024809.5(TCTN2):c.1033+1G>A
NM_024809.5(TCTN2):c.1312+1G>C
NM_024809.5(TCTN2):c.1751T>C (p.Ile584Thr)
NM_024809.5(TCTN2):c.1752A>G (p.Ile584Met)
NM_024809.5(TCTN2):c.1770-2A>G rs1566265412
NM_024809.5(TCTN2):c.1877dup (p.Leu626fs)
NM_024809.5(TCTN2):c.268-2A>G
NM_024809.5(TCTN2):c.565-1G>A
NM_024809.5(TCTN2):c.613G>A (p.Gly205Ser)
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.765-1G>A
NM_024809.5(TCTN2):c.765-1G>C
NM_024809.5(TCTN2):c.82+1G>T
NM_024809.5(TCTN2):c.83-2A>G
NM_024809.5(TCTN2):c.891+1G>A
NM_025103.4(IFT74):c.358G>T (p.Glu120Ter)
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_025114.4(CEP290):c.102+2T>A
NM_025114.4(CEP290):c.102+2T>G rs763226787
NM_025114.4(CEP290):c.1065+1G>A
NM_025114.4(CEP290):c.1065+1G>C rs2138021203
NM_025114.4(CEP290):c.1254_1255del (p.Lys419fs) rs897997464
NM_025114.4(CEP290):c.1310del (p.Lys437fs) rs2137917381
NM_025114.4(CEP290):c.1359+1G>A rs935130451
NM_025114.4(CEP290):c.1360-1G>C
NM_025114.4(CEP290):c.1466T>C (p.Leu489Pro)
NM_025114.4(CEP290):c.148C>T (p.His50Tyr) rs878853363
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.1523-1G>T rs1192112844
NM_025114.4(CEP290):c.1606C>T (p.Gln536Ter) rs1465414886
NM_025114.4(CEP290):c.180+1G>A rs758593134
NM_025114.4(CEP290):c.1910-1G>A
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter) rs1555220625
NM_025114.4(CEP290):c.2041_2052+23del rs2137779120
NM_025114.4(CEP290):c.2052+1G>A
NM_025114.4(CEP290):c.2052+4A>T
NM_025114.4(CEP290):c.2217+1G>T
NM_025114.4(CEP290):c.2217+2T>C rs2038702746
NM_025114.4(CEP290):c.2279_2280del (p.Val759_Phe760insTer) rs2137710225
NM_025114.4(CEP290):c.2367+2T>C rs2137707354
NM_025114.4(CEP290):c.2483+1G>A rs2137661795
NM_025114.4(CEP290):c.250+1G>A
NM_025114.4(CEP290):c.251-1G>C rs2138259162
NM_025114.4(CEP290):c.251-2A>G rs951979448
NM_025114.4(CEP290):c.2586_2586+4del
NM_025114.4(CEP290):c.2594_2595del (p.Leu865fs) rs1221464366
NM_025114.4(CEP290):c.2632del (p.Ile878fs) rs1404507934
NM_025114.4(CEP290):c.2817+1G>T
NM_025114.4(CEP290):c.2992-2A>C
NM_025114.4(CEP290):c.3085G>T (p.Glu1029Ter) rs2137423759
NM_025114.4(CEP290):c.3103+1G>A
NM_025114.4(CEP290):c.3104-2A>G rs773386777
NM_025114.4(CEP290):c.3240T>G (p.Tyr1080Ter) rs886042467
NM_025114.4(CEP290):c.3285del (p.Phe1095fs) rs1017496924
NM_025114.4(CEP290):c.3461+1G>A rs766952056
NM_025114.4(CEP290):c.3488_3494dup (p.Val1166fs) rs2036977719
NM_025114.4(CEP290):c.3573+1G>A
NM_025114.4(CEP290):c.3574-1G>A
NM_025114.4(CEP290):c.3574-2A>G
NM_025114.4(CEP290):c.369del (p.Gln123fs) rs773622064
NM_025114.4(CEP290):c.3894dup (p.Lys1299Ter) rs761907569
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_025114.4(CEP290):c.4030-2A>G rs2036722229
NM_025114.4(CEP290):c.4194+1G>C
NM_025114.4(CEP290):c.4194+2T>A rs2137247685
NM_025114.4(CEP290):c.4243G>T (p.Glu1415Ter) rs797044604
NM_025114.4(CEP290):c.441+1G>A
NM_025114.4(CEP290):c.441+1G>C
NM_025114.4(CEP290):c.442-1G>A
NM_025114.4(CEP290):c.4621del (p.Thr1541fs) rs587779733
NM_025114.4(CEP290):c.4704+1G>A
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.4714G>A (p.Glu1572Lys) rs1292516576
NM_025114.4(CEP290):c.4792_4795del (p.Lys1598fs) rs1592833648
NM_025114.4(CEP290):c.4812+1G>A rs2137167420
NM_025114.4(CEP290):c.4812+1G>T
NM_025114.4(CEP290):c.5013-1G>A
NM_025114.4(CEP290):c.516+1G>A
NM_025114.4(CEP290):c.5227-2A>G
NM_025114.4(CEP290):c.5586+1G>C rs2035880971
NM_025114.4(CEP290):c.5586+1G>T rs2035880971
NM_025114.4(CEP290):c.5587-14_5588del
NM_025114.4(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.4(CEP290):c.5776C>T (p.Arg1926Ter) rs561598805
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.583_584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.584del (p.Leu195fs) rs1277316340
NM_025114.4(CEP290):c.5856-1_5856delinsTT rs2136958216
NM_025114.4(CEP290):c.5856-2A>C
NM_025114.4(CEP290):c.6011+2T>G
NM_025114.4(CEP290):c.6270+1G>T
NM_025114.4(CEP290):c.6270+2T>C
NM_025114.4(CEP290):c.6271-6_6274del rs2034579427
NM_025114.4(CEP290):c.6357+1G>A rs1196938557
NM_025114.4(CEP290):c.6448_6455del (p.Gln2150fs) rs1364945778
NM_025114.4(CEP290):c.6818+2T>C
NM_025114.4(CEP290):c.6818_6818+1dup rs1060499781
NM_025114.4(CEP290):c.6961-1G>T rs2136637204
NM_025114.4(CEP290):c.6961-3_6965del
NM_025114.4(CEP290):c.7130-1G>A
NM_025114.4(CEP290):c.7153del (p.Lys2384_Ile2385insTer) rs781310385
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter) rs1478582091
NM_025114.4(CEP290):c.7233dup (p.Glu2412fs) rs2033254449
NM_025114.4(CEP290):c.7263dup (p.Glu2422Ter) rs1219184437
NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter) rs773642187
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs) rs747138345
NM_025114.4(CEP290):c.7341dup (p.Leu2448fs) rs281865189
NM_025114.4(CEP290):c.734_735del (p.Glu245fs) rs1592671672
NM_025114.4(CEP290):c.829G>T (p.Glu277Ter) rs45502896
NM_025114.4(CEP290):c.832_852+19del rs2138082472
NM_025114.4(CEP290):c.853-2A>G
NM_025114.4(CEP290):c.853-2A>T
NM_025114.4(CEP290):c.942+1G>A rs2039897317
NM_025114.4(CEP290):c.942+1G>C rs2039897317
NM_025114.4(CEP290):c.943-1G>A rs2138025029
NM_025114.4(CEP290):c.943-1G>C rs2138025029
NM_025139.4(ARMC9):c.1211_1334del
NM_030578.4(B9D2):c.156_163del (p.Asp53fs) rs786204189
NM_153704.6(TMEM67):c.1038G>T (p.Trp346Cys) rs754370463
NM_153704.6(TMEM67):c.1066-1G>A
NM_153704.6(TMEM67):c.1132-1G>T
NM_153704.6(TMEM67):c.1132-2A>G
NM_153704.6(TMEM67):c.1288+1G>A
NM_153704.6(TMEM67):c.1289-16_1289-12del
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) rs386834183
NM_153704.6(TMEM67):c.1518+2T>C
NM_153704.6(TMEM67):c.1575+5G>A rs1554555063
NM_153704.6(TMEM67):c.1576-2del
NM_153704.6(TMEM67):c.1645C>A (p.Arg549Ser)
NM_153704.6(TMEM67):c.1674+1G>A rs1211156516
NM_153704.6(TMEM67):c.1675-1G>T
NM_153704.6(TMEM67):c.1771A>G (p.Lys591Glu)
NM_153704.6(TMEM67):c.1774-6_1774-3inv
NM_153704.6(TMEM67):c.1861-1G>A
NM_153704.6(TMEM67):c.2018T>C (p.Val673Ala)
NM_153704.6(TMEM67):c.2086C>G (p.Leu696Val) rs863225238
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) rs863225238
NM_153704.6(TMEM67):c.2128A>G (p.Met710Val) rs112261772
NM_153704.6(TMEM67):c.223+1G>C
NM_153704.6(TMEM67):c.2322+1G>T
NM_153704.6(TMEM67):c.2322+5del rs863225240
NM_153704.6(TMEM67):c.2327C>T (p.Ser776Leu)
NM_153704.6(TMEM67):c.233G>T (p.Cys78Phe)
NM_153704.6(TMEM67):c.2374A>G (p.Arg792Gly) rs1815059174
NM_153704.6(TMEM67):c.2661+5G>A rs863225239
NM_153704.6(TMEM67):c.2764+2T>G
NM_153704.6(TMEM67):c.2879C>T (p.Ala960Val)
NM_153704.6(TMEM67):c.296A>G (p.Lys99Arg)
NM_153704.6(TMEM67):c.313-3T>G rs1586336362
NM_153704.6(TMEM67):c.329A>T (p.Asp110Val)
NM_153704.6(TMEM67):c.371A>C (p.Glu124Ala)
NM_153704.6(TMEM67):c.406+1G>A
NM_153704.6(TMEM67):c.406G>C (p.Val136Leu) rs1812685381
NM_153704.6(TMEM67):c.407-1G>T
NM_153704.6(TMEM67):c.407-2A>G rs2130576231
NM_153704.6(TMEM67):c.475T>C (p.Ser159Pro) rs775716868
NM_153704.6(TMEM67):c.479_480del (p.Phe160fs) rs868404889
NM_153704.6(TMEM67):c.515G>T (p.Arg172Leu)
NM_153704.6(TMEM67):c.576+2T>C
NM_153704.6(TMEM67):c.577-12_577-1delinsAA
NM_153704.6(TMEM67):c.749G>A (p.Gly250Glu)
NM_153704.6(TMEM67):c.754A>G (p.Met252Val)
NM_153704.6(TMEM67):c.869+1G>C
NM_153704.6(TMEM67):c.978+1G>A rs1563458773
NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
Single allele

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