ClinVar Miner

List of variants studied for Joubert syndrome by OMIM

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 166
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HGVS dbSNP gnomAD frequency
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782 0.00771
NM_001375405.1(CEP120):c.2134C>T (p.Leu712Phe) rs114280473 0.00417
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001384732.1(CPLANE1):c.8050G>A (p.Ala2684Thr) rs111294855 0.00212
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_001352754.2(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287 0.00011
NM_001258244.2(TMEM218):c.238C>T (p.Arg80Cys) rs141744337 0.00009
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 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_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs) rs606231259 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001384732.1(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001308120.2(TOGARAM1):c.1124T>C (p.Leu375Pro) rs150433582 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001384732.1(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_153704.6(TMEM67):c.651+2T>G rs199821258 0.00003
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001258244.2(TMEM218):c.239G>A (p.Arg80His) rs575689990 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001352754.2(ARMC9):c.205G>A (p.Gly69Arg) rs750247691 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001384732.1(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063 0.00002
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015681.6(B9D1):c.95A>G (p.Tyr32Cys) rs771170000 0.00002
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606 0.00001
NM_001308120.2(TOGARAM1):c.3619C>T (p.Arg1207Ter) rs370236552 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_001375405.1(CEP120):c.1646C>T (p.Ala549Val) rs775080726 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001384732.1(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261 0.00001
NM_001384732.1(CPLANE1):c.7400+1G>A rs367543062 0.00001
NM_004311.4(ARL3):c.445C>T (p.Arg149Cys) rs776901858 0.00001
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) rs539010725 0.00001
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817 0.00001
NM_015681.6(B9D1):c.467G>A (p.Arg156Gln) rs886038205 0.00001
NM_016169.4(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509 0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670 0.00001
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) rs863225232 0.00001
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) rs267607118 0.00001
NM_153704.6(TMEM67):c.2439+5G>C rs756686115 0.00001
NM_173348.2(FAM149B1):c.439C>T (p.Gln147Ter) rs1259897171 0.00001
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys) rs863225430
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001258244.2(TMEM218):c.26G>T (p.Gly9Val) rs1950967763
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.3248C>A (p.Ser1083Ter) rs1463041654
NM_001308120.2(TOGARAM1):c.3931C>T (p.Arg1311Cys) rs759684383
NM_001308120.2:c.2339_3238del
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001352754.2(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_001352754.2(ARMC9):c.1211-434_1335-1595delinsGTTTGTTTGTTTGTTTGCATTA
NM_001352754.2(ARMC9):c.1474+1G>C rs1114167448
NM_001352754.2(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_001352754.2(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_001375405.1(CEP120):c.1138_1139insA (p.Ser380fs) rs1554103267
NM_001375405.1(CEP120):c.2177T>C (p.Leu726Pro) rs1554102026
NM_001375405.1(CEP120):c.581T>C (p.Val194Ala) rs1554104276
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001379286.1(ZNF423):c.1542del (p.Asn515fs) rs1596763347
NM_001379286.1(ZNF423):c.3853C>T (p.His1285Tyr) rs1596988259
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_001384732.1(CPLANE1):c.3150-1G>T rs606231258
NM_001384732.1(CPLANE1):c.3290-2A>G rs606231260
NM_001384732.1(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_002601.4(PDE6D):c.367_368insG (p.Leu123fs) rs1559307932
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_004311.4(ARL3):c.446G>A (p.Arg149His) rs770782663
NM_006346.4(PIBF1):c.1181_1182insGCTTCGCAGATTGAAAACCAACCAAGAAATTGATCA (p.Arg385_Arg396dup) rs2037306370
NM_006346.4:c.(672+1_673-1)_(1322+1_1323-1)del
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_014804.3(KIAA0753):c.2359-1G>C rs1312865574
NM_014804.3(KIAA0753):c.769A>G (p.Arg257Gly) rs2150895254
NM_015202.5(KATNIP):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.5(KATNIP):c.4420del (p.Met1474fs) rs1555497891
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015681.6(B9D1):c.517GTG[1] (p.Val174del) rs886038206
NM_016169.4(SUFU):c.527A>G (p.His176Arg) rs1554852272
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_024809.5(TCTN2):c.1235-1G>A rs863225425
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_025103.4(IFT74):c.306-24A>G rs2131540908
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_025103.4(IFT74):c.92del (p.Leu31fs) rs2131480409
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.2315_2322+4delinsG rs1554557920
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.6(TMEM67):c.[1634G>A;2241G>A]
NM_173348.2(FAM149B1):c.356_357del (p.Lys119fs) rs1589150410
NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly) rs483352868
NM_183065.4(TMEM107):c.295TTC[1] (p.Phe100del) rs752171066
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) rs780942335

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