ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 1 by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 265
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1162G>A (p.Val388Ile) rs115924432
NM_001080522.2(CC2D2A):c.1359+10A>G rs373012628
NM_001080522.2(CC2D2A):c.1392C>A (p.Gly464=) rs755258233
NM_001080522.2(CC2D2A):c.1506T>C (p.Asp502=) rs765072025
NM_001080522.2(CC2D2A):c.1689C>T (p.His563=) rs755367503
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1946C>T (p.Thr649Met) rs201884883
NM_001080522.2(CC2D2A):c.2007G>A (p.Ala669=) rs376644970
NM_001080522.2(CC2D2A):c.2050T>A (p.Leu684Ile) rs190698163
NM_001080522.2(CC2D2A):c.2181+7A>C rs143681243
NM_001080522.2(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.2904A>T (p.Val968=) rs1457559560
NM_001080522.2(CC2D2A):c.2945G>A (p.Arg982His) rs150093365
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3084G>C (p.Arg1028=) rs373698524
NM_001080522.2(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3567A>G (p.Pro1189=) rs1553841140
NM_001080522.2(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.415T>C (p.Leu139=) rs570078140
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544
NM_001082538.3(TCTN1):c.1656G>A (p.Arg552=) rs1248295755
NM_001082538.3(TCTN1):c.1749G>T (p.Leu583=) rs1228988444
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.570A>G (p.Glu190=) rs199584658
NM_001082538.3(TCTN1):c.672G>A (p.Ser224=) rs763386832
NM_001082538.3(TCTN1):c.699_701TAA[1] (p.Asn235del) rs797046038
NM_001082538.3(TCTN1):c.713-9G>T rs201293727
NM_001082538.3(TCTN1):c.846C>G (p.Val282=) rs368536784
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
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.1829G>A (p.Arg610Gln) rs374009466
NM_001134831.2(AHI1):c.1893G>A (p.Arg631=) rs376848097
NM_001134831.2(AHI1):c.2637C>A (p.Ala879=) rs1308009765
NM_001134831.2(AHI1):c.2714G>C (p.Cys905Ser) rs199879855
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
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+7T>G rs200658320
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001134831.2(AHI1):c.2961+8T>A rs199887601
NM_001134831.2(AHI1):c.2961+9A>C rs201870233
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.3535G>T (p.Asp1179Tyr) rs188583221
NM_001134831.2(AHI1):c.3546G>A (p.Met1182Ile) rs184236039
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.428C>G (p.Pro143Arg) rs192524061
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.729C>T (p.Val243=) rs370392354
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001142301.1(TMEM67):c.626+9A>G rs372597584
NM_001165927.1(MKS1):c.1146G>A (p.Pro382=) rs775169308
NM_001165927.1(MKS1):c.1183G>A (p.Asp395Asn) rs372554696
NM_001165927.1(MKS1):c.1319T>C (p.Ile440Thr) rs200865108
NM_001165927.1(MKS1):c.1460+9C>T rs1555596804
NM_001165927.1(MKS1):c.1476G>A (p.Ser492=) rs368535131
NM_001165927.1(MKS1):c.1571G>A (p.Arg524Gln) rs199910690
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.219G>A (p.Lys73=) rs62636631
NM_001165927.1(MKS1):c.438C>T (p.Val146=) rs199684837
NM_001165927.1(MKS1):c.461G>A (p.Arg154His) rs200149256
NM_001165927.1(MKS1):c.485+8C>T rs376823839
NM_001165927.1(MKS1):c.486-10T>C rs375046501
NM_001165927.1(MKS1):c.50+243C>T rs372471169
NM_001165927.1(MKS1):c.50+258C>T rs369488349
NM_001165927.1(MKS1):c.614+8G>T rs370117125
NM_001165927.1(MKS1):c.614+9C>T rs754404940
NM_001165927.1(MKS1):c.783C>T (p.His261=) rs201961765
NM_001165927.1(MKS1):c.844A>G (p.Lys282Glu) rs201845569
NM_001165927.1(MKS1):c.873C>T (p.Thr291=) rs142805406
NM_001165927.1(MKS1):c.929-4G>A rs201137386
NM_001173990.3(TMEM216):c.123A>C (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173990.3(TMEM216):c.229+10G>A rs1590642512
NM_001173990.3(TMEM216):c.324G>A (p.Leu108=) rs528921796
NM_001173990.3(TMEM216):c.405G>A (p.Glu135=) rs748486939
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.51C>T (p.Ser17=) rs548233683
NM_003611.3(OFD1):c.1698C>T (p.Ile566=) rs1019902525
NM_003611.3(OFD1):c.2931C>T (p.Ser977=) rs1555908984
NM_003611.3(OFD1):c.705A>G (p.Lys235=) rs773888732
NM_003611.3(OFD1):c.892G>A (p.Gly298Arg) rs778349684
NM_015272.5(RPGRIP1L):c.1029+8C>T rs367844249
NM_015272.5(RPGRIP1L):c.1030-8C>T rs907172288
NM_015272.5(RPGRIP1L):c.1030-9T>C rs779543814
NM_015272.5(RPGRIP1L):c.111G>A (p.Lys37=) rs774172381
NM_015272.5(RPGRIP1L):c.1218C>A (p.Ile406=) rs1598357541
NM_015272.5(RPGRIP1L):c.1419_1421del (p.Lys473del) rs760952407
NM_015272.5(RPGRIP1L):c.165G>A (p.Leu55=) rs138048667
NM_015272.5(RPGRIP1L):c.1660C>A (p.Leu554Ile) rs79524027
NM_015272.5(RPGRIP1L):c.1704A>G (p.Gln568=) rs141201084
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646
NM_015272.5(RPGRIP1L):c.1872T>C (p.Ser624=) rs149464542
NM_015272.5(RPGRIP1L):c.1881A>G (p.Lys627=) rs774731949
NM_015272.5(RPGRIP1L):c.195A>G (p.Lys65=) rs550006406
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2305-8T>G rs953486434
NM_015272.5(RPGRIP1L):c.2442T>C (p.Tyr814=) rs770299101
NM_015272.5(RPGRIP1L):c.2448G>A (p.Val816=) rs140241814
NM_015272.5(RPGRIP1L):c.2586T>C (p.Ser862=) rs771569223
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys) rs139503476
NM_015272.5(RPGRIP1L):c.2683+7C>T rs768922800
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239
NM_015272.5(RPGRIP1L):c.2838A>G (p.Arg946=) rs754686404
NM_015272.5(RPGRIP1L):c.2841T>C (p.Leu947=) rs556719572
NM_015272.5(RPGRIP1L):c.2874+8T>C rs371853408
NM_015272.5(RPGRIP1L):c.2997A>G (p.Ser999=) rs1165700039
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3132G>A (p.Val1044=) rs201711256
NM_015272.5(RPGRIP1L):c.3249T>C (p.Ser1083=) rs11860753
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.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699
NM_015272.5(RPGRIP1L):c.3745G>T (p.Asp1249Tyr) rs148773489
NM_015272.5(RPGRIP1L):c.3780C>T (p.Val1260=) rs144924117
NM_015272.5(RPGRIP1L):c.3928A>G (p.Arg1310Gly) rs547718820
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427
NM_015272.5(RPGRIP1L):c.787C>A (p.Arg263=) rs773626315
NM_015272.5(RPGRIP1L):c.882+8G>A rs773501615
NM_015272.5(RPGRIP1L):c.960G>A (p.Gln320=) rs148808566
NM_015681.5(B9D1):c.303A>T (p.Arg101=) rs1555607998
NM_015681.5(B9D1):c.33C>T (p.Leu11=) rs751480715
NM_015681.5(B9D1):c.369C>A (p.Val123=) rs138240520
NM_015681.5(B9D1):c.376T>A (p.Ser126Thr) rs201299216
NM_017777.4(MKS1):c.1024+10A>G rs749001732
NM_017777.4(MKS1):c.1086C>T (p.Ser362=) rs748800331
NM_017777.4(MKS1):c.1098C>T (p.Asp366=) rs1374437999
NM_017777.4(MKS1):c.1209G>A (p.Ser403=) rs770493819
NM_017777.4(MKS1):c.1233T>C (p.Arg411=) rs201128765
NM_017777.4(MKS1):c.1260G>A (p.Leu420=) rs749099410
NM_017777.4(MKS1):c.1273+7G>A rs569463908
NM_017777.4(MKS1):c.1274-4G>T rs377033778
NM_017777.4(MKS1):c.1338G>A (p.Arg446=) rs1179924577
NM_017777.4(MKS1):c.1413A>G (p.Glu471=) rs1597975817
NM_017777.4(MKS1):c.1668C>T (p.Thr556=) rs553314050
NM_017777.4(MKS1):c.204A>T (p.Pro68=) rs557752726
NM_017777.4(MKS1):c.351G>A (p.Ser117=) rs370781583
NM_017777.4(MKS1):c.672C>T (p.Val224=) rs200531517
NM_017777.4(MKS1):c.70T>C (p.Leu24=) rs538371478
NM_017777.4(MKS1):c.729G>A (p.Thr243=) rs373491923
NM_017777.4(MKS1):c.759G>A (p.Thr253=) rs770140009
NM_019892.6(INPP5E):c.1047G>A (p.Glu349=) rs752019065
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.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1275C>T (p.Phe425=) rs780525765
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046
NM_019892.6(INPP5E):c.1716C>T (p.Ser572=) rs888610698
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.528C>T (p.Ala176=) rs561511490
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_019892.6(INPP5E):c.906C>T (p.Phe302=) rs140222295
NM_019892.6(INPP5E):c.976G>A (p.Glu326Lys) rs200794870
NM_019892.6(INPP5E):c.997C>T (p.Leu333=) rs151090087
NM_024809.5(TCTN2):c.1505+3G>C rs111574617
NM_024809.5(TCTN2):c.1827C>T (p.Asp609=) rs150634667
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.612C>T (p.Thr204=) rs761526808
NM_025114.4(CEP290):c.1057C>T (p.Leu353=) rs1036812157
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.4(CEP290):c.1104C>T (p.Thr368=) rs483352755
NM_025114.4(CEP290):c.1298A>G (p.Asp433Gly) rs200211587
NM_025114.4(CEP290):c.1360-4T>G rs200328638
NM_025114.4(CEP290):c.1386C>T (p.Val462=) rs886038689
NM_025114.4(CEP290):c.1440A>G (p.Glu480=) rs777299440
NM_025114.4(CEP290):c.1455A>G (p.Glu485=) rs755893750
NM_025114.4(CEP290):c.1523-6T>C rs755202424
NM_025114.4(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.4(CEP290):c.1623+10G>T rs377529198
NM_025114.4(CEP290):c.1711+8C>T rs765158159
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052
NM_025114.4(CEP290):c.1825-8T>G rs769405843
NM_025114.4(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.4(CEP290):c.1918T>C (p.Leu640=) rs541138095
NM_025114.4(CEP290):c.204G>A (p.Leu68=) rs780930630
NM_025114.4(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.4(CEP290):c.226G>A (p.Ala76Thr) rs373913704
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780
NM_025114.4(CEP290):c.2638G>T (p.Ala880Ser) rs147362398
NM_025114.4(CEP290):c.2778T>C (p.Ala926=) rs767032720
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe) rs546463648
NM_025114.4(CEP290):c.2928C>T (p.Tyr976=) rs1393060819
NM_025114.4(CEP290):c.3024G>A (p.Glu1008=) rs1227765663
NM_025114.4(CEP290):c.3081C>A (p.Ala1027=) rs779561006
NM_025114.4(CEP290):c.3135A>G (p.Lys1045=) rs370622537
NM_025114.4(CEP290):c.3246C>T (p.His1082=) rs539042966
NM_025114.4(CEP290):c.3273G>A (p.Glu1091=) rs771584252
NM_025114.4(CEP290):c.3310-7T>G rs373298179
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134
NM_025114.4(CEP290):c.3420A>G (p.Glu1140=) rs762723146
NM_025114.4(CEP290):c.3442C>G (p.Leu1148Val) rs372190684
NM_025114.4(CEP290):c.3486C>T (p.Ala1162=) rs376583223
NM_025114.4(CEP290):c.3498T>G (p.Val1166=) rs750099379
NM_025114.4(CEP290):c.3564A>G (p.Leu1188=) rs900618917
NM_025114.4(CEP290):c.3594G>A (p.Ser1198=) rs376645523
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.4068T>G (p.Leu1356=) rs377227262
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186
NM_025114.4(CEP290):c.4182G>A (p.Val1394=) rs371530941
NM_025114.4(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.4(CEP290):c.4428A>G (p.Ser1476=) rs1206552589
NM_025114.4(CEP290):c.4441C>T (p.Leu1481=) rs1220385672
NM_025114.4(CEP290):c.4578G>A (p.Glu1526=) rs775294433
NM_025114.4(CEP290):c.5012+10C>T rs191369238
NM_025114.4(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.4(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.4(CEP290):c.5127G>T (p.Gln1709His) rs757738553
NM_025114.4(CEP290):c.5164A>G (p.Thr1722Ala) rs375817905
NM_025114.4(CEP290):c.5255G>A (p.Arg1752Gln) rs116469117
NM_025114.4(CEP290):c.5256G>A (p.Arg1752=) rs754590700
NM_025114.4(CEP290):c.5391T>C (p.Asn1797=) rs1034544936
NM_025114.4(CEP290):c.5421A>G (p.Thr1807=) rs370464321
NM_025114.4(CEP290):c.5574C>T (p.Thr1858=) rs775652694
NM_025114.4(CEP290):c.5586+9A>G rs746293904
NM_025114.4(CEP290):c.5766A>T (p.Ile1922=) rs1027531979
NM_025114.4(CEP290):c.5776C>A (p.Arg1926=) rs561598805
NM_025114.4(CEP290):c.5896A>G (p.Thr1966Ala) rs780570235
NM_025114.4(CEP290):c.6001T>C (p.Leu2001=) rs112738303
NM_025114.4(CEP290):c.6005A>G (p.Tyr2002Cys) rs573872325
NM_025114.4(CEP290):c.609C>T (p.Asp203=) rs767725492
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773
NM_025114.4(CEP290):c.6358-4G>A rs369154492
NM_025114.4(CEP290):c.6358-5C>T rs372986399
NM_025114.4(CEP290):c.6452T>C (p.Leu2151Ser) rs191613017
NM_025114.4(CEP290):c.6582C>T (p.Ser2194=) rs1592739990
NM_025114.4(CEP290):c.660T>C (p.Asp220=) rs777201814
NM_025114.4(CEP290):c.6666A>G (p.Lys2222=) rs544886883
NM_025114.4(CEP290):c.6870T>C (p.Asn2290=) rs572443869
NM_025114.4(CEP290):c.6909A>C (p.Ala2303=) rs774138995
NM_025114.4(CEP290):c.6960+9C>T rs373226012
NM_025114.4(CEP290):c.7005A>G (p.Gln2335=) rs1592722143
NM_025114.4(CEP290):c.7293C>T (p.Tyr2431=) rs1397480003
NM_025114.4(CEP290):c.834C>T (p.Asn278=) rs567493515
NM_025114.4(CEP290):c.943-4C>T rs199770158
NM_025114.4(CEP290):c.943-8A>T rs200729812
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) rs35765535
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) rs145236803
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) rs111619594

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