ClinVar Miner

List of variants reported as likely benign for Joubert syndrome by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 109
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HGVS dbSNP
NM_001077416.2(TMEM231):c.1086_1087invCT (p.Asp362_Leu363delinsGluVal)
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.191C>T (p.Ser64Phe) rs377440297
NM_001077416.2(TMEM231):c.629C>T (p.Ala210Val) rs201036290
NM_001077416.2(TMEM231):c.742-10C>T rs774265542
NM_001077416.2(TMEM231):c.957A>G (p.Val319=) rs772364535
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.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_001082538.2(TCTN1):c.1095T>C (p.His365=) rs767963074
NM_001082538.2(TCTN1):c.1379G>C (p.Ser460Thr) rs190390987
NM_001082538.2(TCTN1):c.570A>G (p.Glu190=) rs199584658
NM_001082538.2(TCTN1):c.702_704delTAA (p.Asn235del) rs797046038
NM_001082538.2(TCTN1):c.705C>T (p.Asn235=) rs752181429
NM_001082538.2(TCTN1):c.713-9G>T rs201293727
NM_001082538.2(TCTN1):c.846C>G (p.Val282=) rs368536784
NM_001082538.2(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001173990.2(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173991.2(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001244189.1(KIAA0586):c.153G>A (p.Glu51=) rs190089844
NM_001244189.1(KIAA0586):c.3822T>G (p.Ser1274=) rs201202020
NM_001244189.1(KIAA0586):c.4464C>G (p.Ala1488=) rs144692893
NM_001244189.1(KIAA0586):c.4589-6A>C rs199732899
NM_002601.3(PDE6D):c.409G>A (p.Asp137Asn) rs146510084
NM_003611.2(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.2(OFD1):c.2319A>G (p.Pro773=) rs752137789
NM_003611.2(OFD1):c.282C>T (p.Phe94=) rs762169661
NM_003611.2(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.2(OFD1):c.355C>A (p.Pro119Thr) rs202103941
NM_003611.2(OFD1):c.69A>G (p.Leu23=) rs1060503868
NM_003611.2(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_015272.4(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.4(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542
NM_015272.4(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.4(RPGRIP1L):c.3312C>G (p.Pro1104=) rs568801926
NM_015272.4(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870
NM_015631.5(TCTN3):c.1425G>A (p.Arg475=) rs144543830
NM_015631.5(TCTN3):c.946A>G (p.Thr316Ala) rs200042949
NM_015631.5(TCTN3):c.9C>A (p.Thr3=) rs1471002377
NM_015681.4(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.4(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_017651.4(AHI1):c.1425C>G (p.Ala475=) rs749317327
NM_017651.4(AHI1):c.1533T>G (p.Val511=) rs373669500
NM_017651.4(AHI1):c.1674T>G (p.Gly558=) rs750069868
NM_017651.4(AHI1):c.2421G>A (p.Glu807=) rs864622356
NM_017651.4(AHI1):c.2961+6_2961+21delinsGACTTTTTTAAAGTTTTAAA rs878855030
NM_017651.4(AHI1):c.2961+6_2961+7insGAC rs780835322
NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_017651.4(AHI1):c.2961+9A>T rs201870233
NM_017651.4(AHI1):c.3546G>A (p.Met1182Ile) rs184236039
NM_017651.4(AHI1):c.3589-5T>C rs864622110
NM_017651.4(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_017651.4(AHI1):c.708A>G (p.Lys236=) rs368281930
NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_017777.3(MKS1):c.1490+9C>T rs1555596804
NM_017777.3(MKS1):c.27C>T (p.Asp9=) rs369488349
NM_017777.3(MKS1):c.959-4G>A rs201137386
NM_018718.2(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.2(CEP41):c.1065C>G (p.Ser355Arg) rs116313397
NM_018718.2(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_019892.5(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCGTGGCTGGAGGGGTGGGCG rs71269007
NM_019892.5(INPP5E):c.1159+8_1159+9insAGCTGGAGGGGTGGGCGC rs747240016
NM_019892.5(INPP5E):c.1176G>A (p.Thr392=) rs528176529
NM_019892.5(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.5(INPP5E):c.516G>T (p.Pro172=) rs372551521
NM_019892.5(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.5(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.3672+8A>G rs190206388
NM_023073.3(CPLANE1):c.4095C>T (p.Phe1365=) rs750696838
NM_023073.3(CPLANE1):c.8617A>G (p.Met2873Val) rs143626904
NM_023073.3(CPLANE1):c.9417+7A>G rs369166609
NM_024790.6(CSPP1):c.159C>T (p.Ala53=) rs370003497
NM_024790.6(CSPP1):c.2253A>G (p.Glu751=) rs199962946
NM_024809.4(TCTN2):c.1505+3G>C rs111574617
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.204G>A (p.Leu68=) rs780930630
NM_025114.3(CEP290):c.2217+6A>G rs139027723
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.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.503G>A (p.Arg168His) rs200063017
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_030578.3(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_182896.2(ARL13B):c.501A>C (p.Ala167=) rs774807971
NM_182896.2(ARL13B):c.720C>T (p.Leu240=) rs752196300

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