ClinVar Miner

List of variants studied for Joubert syndrome by OMIM

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 136
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HGVS dbSNP
CC2D2A, 1-BP DEL, 3289G
CC2D2A, IVS19DS, G-C, +1
CEP290, 1-BP DEL, 4656A
CEP41, 3-BP DEL, IVS1DS, 97GAG
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801
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.1484G>A (p.Arg495His) rs387907003
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
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_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050
NM_001142301.1(TMEM67):c.2072_2079+4delinsG rs1554557920
NM_001142301.1(TMEM67):c.2196+5G>C
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1461-2A>G rs886038203
NM_001165927.1(MKS1):c.1558+1G>T rs886038204
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606
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_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_002601.4(PDE6D):c.140-1G>A rs587777156
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_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_015202.4(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.4(KIAA0556):c.4420del (p.Met1474fs) rs1555497891
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015681.5(B9D1):c.467G>A (p.Arg156Gln) rs886038205
NM_015681.5(B9D1):c.517_519GTG[1] (p.Val174del) rs886038206
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_016169.3(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758
NM_016169.3(SUFU):c.527A>G (p.His176Arg) rs1554852272
NM_016464.5(TMEM138):c.128+5G>A
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_016499.5(TMEM216):c.35G>A (p.Arg12His) rs201108965
NM_018718.3(CEP41):c.33+2T>G
NM_018718.3(CEP41):c.423-2A>C
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_023073.3(CPLANE1):c.3150-1G>T rs606231258
NM_023073.3(CPLANE1):c.3290-2A>G rs606231260
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2244_2247del (p.Glu750fs) rs587777145
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) rs537456518
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) rs587777146
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
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_025114.3(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025139.5(ARMC9):c.1211_1334del (p.Arg405Alafs) rs1553611393
NM_025139.6(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_025139.6(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287
NM_025139.6(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312
NM_025139.6(ARMC9):c.1474+1G>C rs1114167448
NM_025139.6(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931
NM_025139.6(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_025139.6(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_025139.6(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_152388.4(TMEM237):c.1042dup (p.Gln348fs) rs751952525
NM_153223.3(CEP120):c.1138_1139insA (p.Ser380fs) rs1554103267
NM_153223.3(CEP120):c.1646C>T (p.Ala549Val) rs775080726
NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) rs114280473
NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro) rs1554102026
NM_153223.3(CEP120):c.581T>C (p.Val194Ala) rs1554104276
NM_153704.5(TMEM67):c.130C>T (p.Gln44Ter) rs267607118
NM_153704.5(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.5(TMEM67):c.1634G>A (p.Gly545Glu) rs267607114
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.2461G>C (p.Gly821Arg) rs267607116
NM_153704.5(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_153704.5(TMEM67):c.651+2T>G rs199821258
NM_153704.5(TMEM67):c.755T>C (p.Met252Thr) rs202149403
NM_175876.5(EXOC8):c.794A>G (p.Glu265Gly) rs483352868
NM_198525.3(KIF7):c.3986_3997del (p.Arg1329_Ser1332del) rs780942335
NPHP1, DEL
PIBF1, EX6-9 DEL
RPGRIP1L, 1-BP DEL, 1721A
TMEM67, PRO358LEU

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