ClinVar Miner

List of variants reported as likely benign for Joubert syndrome

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 262
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HGVS dbSNP
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001044385.2(TMEM237):c.870-13_870-12delTT rs555284377
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.957A>G (p.Val319=) rs772364535
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1359+9G>T rs369964702
NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.4065+9T>C rs748709735
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.576T>C (p.Tyr192=) rs536646769
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082538.2(TCTN1):c.473-6_473-4delAAA rs10577377
NM_001082538.3(TCTN1):c.1095T>C (p.His365=) rs767963074
NM_001082538.3(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658
NM_001082538.3(TCTN1):c.699_701TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.705C>T (p.Asn235=) rs752181429
NM_001082538.3(TCTN1):c.713-9G>T rs201293727
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*396_*397dup rs397885237
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1425C>G (p.Ala475=) rs749317327
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500
NM_001134831.2(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2421G>A (p.Glu807=) rs864622356
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_001134831.2(AHI1):c.2961+6_2961+7insGAC rs780835322
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2961+9A>T rs201870233
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039
NM_001134831.2(AHI1):c.3589-5T>C rs864622110
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_001134831.2(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001161454.1(CYB561A3):c.-749T>C rs7120780
NM_001173990.2(TMEM216):c.34+18_34+21delTGTG rs940443692
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001174150.2(ARL13B):c.*1136A>G rs78386221
NM_001174150.2(ARL13B):c.*1705T>C rs567211919
NM_001174150.2(ARL13B):c.*703C>T rs75280469
NM_001174150.2(ARL13B):c.-234G>T rs114936013
NM_001174150.2(ARL13B):c.-257C>T rs73846074
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300
NM_001257159.1(CEP41):c.-144G>A rs10230435
NM_001257159.1(CEP41):c.-178C>T rs10230670
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) rs190089844
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) rs201202020
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) rs144692893
NM_001329943.3(KIAA0586):c.4430-6A>C rs199732899
NM_002601.4(PDE6D):c.409G>A (p.Asp137Asn) rs146510084
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.3(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.3(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015631.6(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949
NM_015631.6(TCTN3):c.9C>A (p.Thr3=) rs1471002377
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_017777.3(MKS1):c.1490+9C>T rs1555596804
NM_017777.3(MKS1):c.1588+12C>G rs762501967
NM_017777.3(MKS1):c.1600C>A (p.Arg534=) rs772719574
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.771G>A (p.Lys257=) rs886038632
NM_017777.3(MKS1):c.80+14C>G rs761061379
NM_017777.3(MKS1):c.959-4G>A rs201137386
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.678C>T (p.Asp226=) rs545406161
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1176G>A (p.Thr392=) rs528176529
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1388-13C>T rs78828148
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.516G>T (p.Pro172=) rs372551521
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_023073.3(CPLANE1):c.*441A>C rs7712558
NM_023073.3(CPLANE1):c.*641C>T rs116744214
NM_023073.3(CPLANE1):c.*889A>G rs75549748
NM_023073.3(CPLANE1):c.-234G>C rs80164363
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3672+8A>G rs190206388
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4190-10_4190-9delTT rs111508546
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
NM_023073.3(CPLANE1):c.4986A>C (p.Gln1662His) rs547409263
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8212-15G>A rs74881219
NM_023073.3(CPLANE1):c.8471-3delT rs34646696
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8617A>G (p.Met2873Val) rs143626904
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.9417+7A>G rs369166609
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
NM_024753.4(TTC21B):c.2569-5dupT rs144600502
NM_024753.5(TTC21B):c.*105G>A rs74548052
NM_024753.5(TTC21B):c.*1105G>T rs6756388
NM_024753.5(TTC21B):c.*517G>A rs77199262
NM_024753.5(TTC21B):c.*531A>G rs56115495
NM_024753.5(TTC21B):c.*878A>G rs62177807
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.5(TTC21B):c.2211+13A>G rs73969727
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024790.6(CSPP1):c.3281A>G (p.Glu1094Gly) rs201629827
NM_024809.5(TCTN2):c.*155G>A rs12811354
NM_024809.5(TCTN2):c.*412T>C rs112525270
NM_024809.5(TCTN2):c.*468C>T rs7398298
NM_024809.5(TCTN2):c.*87C>T rs113292231
NM_024809.5(TCTN2):c.-95G>A rs7980060
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1505+3G>C rs111574617
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_025114.3(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1360-4T>G rs200328638
NM_025114.3(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2217+6A>G rs139027723
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.3(CEP290):c.3342G>A (p.Val1114=) rs754811220
NM_025114.3(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.3(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.3(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.3(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.3(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.3(CEP290):c.943-4C>T rs199770158
NM_025114.3(CEP290):c.943-8A>T rs200729812
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221

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