ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 344
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HGVS dbSNP
NM_001044385.3(TMEM237):c.*1008A>G
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1148A>G
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1330C>T
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1382C>T
NM_001044385.3(TMEM237):c.*1436G>T
NM_001044385.3(TMEM237):c.*1489G>C
NM_001044385.3(TMEM237):c.*1560C>T
NM_001044385.3(TMEM237):c.*1561G>A
NM_001044385.3(TMEM237):c.*1588G>A
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1606T>C
NM_001044385.3(TMEM237):c.*1655G>A
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*1835C>T
NM_001044385.3(TMEM237):c.*1879G>A
NM_001044385.3(TMEM237):c.*1890G>A
NM_001044385.3(TMEM237):c.*1965G>A
NM_001044385.3(TMEM237):c.*1975C>G
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2137A>G
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2180G>A
NM_001044385.3(TMEM237):c.*2307A>G
NM_001044385.3(TMEM237):c.*2349C>T
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2448C>A
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2495C>G
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*2626T>C
NM_001044385.3(TMEM237):c.*2652A>G
NM_001044385.3(TMEM237):c.*2670C>T
NM_001044385.3(TMEM237):c.*2682G>C rs886055438
NM_001044385.3(TMEM237):c.*2719G>A rs142852956
NM_001044385.3(TMEM237):c.*283A>C rs886055446
NM_001044385.3(TMEM237):c.*2960C>A rs188637429
NM_001044385.3(TMEM237):c.*2964T>A
NM_001044385.3(TMEM237):c.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*303C>T
NM_001044385.3(TMEM237):c.*308T>G rs185380807
NM_001044385.3(TMEM237):c.*3123T>A
NM_001044385.3(TMEM237):c.*3124A>T
NM_001044385.3(TMEM237):c.*3350A>T
NM_001044385.3(TMEM237):c.*3372C>T rs192214909
NM_001044385.3(TMEM237):c.*3385C>T rs374762322
NM_001044385.3(TMEM237):c.*3453T>G rs77771615
NM_001044385.3(TMEM237):c.*3517A>G
NM_001044385.3(TMEM237):c.*3697G>A rs761856568
NM_001044385.3(TMEM237):c.*3728A>G rs555315551
NM_001044385.3(TMEM237):c.*3855A>G rs187328136
NM_001044385.3(TMEM237):c.*3992A>G
NM_001044385.3(TMEM237):c.*3997A>G
NM_001044385.3(TMEM237):c.*3C>A
NM_001044385.3(TMEM237):c.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*439G>A
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*564T>C
NM_001044385.3(TMEM237):c.*62A>G
NM_001044385.3(TMEM237):c.*634C>T
NM_001044385.3(TMEM237):c.*663G>C
NM_001044385.3(TMEM237):c.*74T>C
NM_001044385.3(TMEM237):c.*781G>A
NM_001044385.3(TMEM237):c.*895C>G
NM_001044385.3(TMEM237):c.*940A>C
NM_001044385.3(TMEM237):c.*962A>C
NM_001044385.3(TMEM237):c.*969A>G
NM_001044385.3(TMEM237):c.*987C>T rs568084746
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.-25G>A rs568671275
NM_001044385.3(TMEM237):c.-59G>A rs886055449
NM_001044385.3(TMEM237):c.-61G>A rs571550977
NM_001044385.3(TMEM237):c.-67T>G rs886055450
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.132A>C (p.Thr44=)
NM_001044385.3(TMEM237):c.136+8G>A rs200618675
NM_001044385.3(TMEM237):c.157C>T (p.Leu53Phe)
NM_001044385.3(TMEM237):c.183C>T (p.Pro61=) rs372100073
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.396-13G>A
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256
NM_001044385.3(TMEM237):c.499A>G (p.Thr167Ala)
NM_001044385.3(TMEM237):c.546A>G (p.Glu182=)
NM_001044385.3(TMEM237):c.668G>A (p.Arg223Gln) rs770053080
NM_001044385.3(TMEM237):c.736G>A (p.Val246Met) rs886055448
NM_001044385.3(TMEM237):c.75-13T>C rs116829037
NM_001044385.3(TMEM237):c.80-11T>C rs76296365
NM_001044385.3(TMEM237):c.807G>A (p.Ala269=) rs763452347
NM_001044385.3(TMEM237):c.869+10A>G rs376868416
NM_001044385.3(TMEM237):c.875A>T (p.Asp292Val)
NM_001044385.3(TMEM237):c.97C>T (p.Arg33Cys) rs200714434
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1146T>A
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1327C>T
NM_001134831.2(AHI1):c.*1404A>G
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1568A>T
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*1684T>C
NM_001134831.2(AHI1):c.*216G>A
NM_001134831.2(AHI1):c.*218C>T rs1052502
NM_001134831.2(AHI1):c.*246T>C
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*484G>A
NM_001134831.2(AHI1):c.*588A>G rs555215397
NM_001134831.2(AHI1):c.*68C>T rs886061108
NM_001134831.2(AHI1):c.*793A>G rs191324834
NM_001134831.2(AHI1):c.*80C>T rs536580823
NM_001134831.2(AHI1):c.*981C>T
NM_001134831.2(AHI1):c.-214C>T rs183265971
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.-332C>G
NM_001134831.2(AHI1):c.-347C>T
NM_001134831.2(AHI1):c.-53A>G
NM_001134831.2(AHI1):c.-54G>T
NM_001134831.2(AHI1):c.10+13T>C
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.1235A>G (p.Gln412Arg)
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1458A>T (p.Gly486=) rs371835751
NM_001134831.2(AHI1):c.1594G>A (p.Val532Ile)
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His)
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.1780-3T>C
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.189+12T>C
NM_001134831.2(AHI1):c.1904C>T (p.Pro635Leu) rs371531507
NM_001134831.2(AHI1):c.1911T>G (p.Ile637Met) rs780336496
NM_001134831.2(AHI1):c.1912+15T>G
NM_001134831.2(AHI1):c.1948T>C (p.Leu650=)
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2222A>G (p.Asp741Gly)
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2382A>G (p.Lys794=) rs191682790
NM_001134831.2(AHI1):c.2414A>G (p.Tyr805Cys)
NM_001134831.2(AHI1):c.2445G>A (p.Leu815=)
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2492+15G>A rs535243555
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
NM_001134831.2(AHI1):c.2578G>T (p.Ala860Ser)
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2660A>G (p.Lys887Arg)
NM_001134831.2(AHI1):c.2763T>C (p.His921=) rs886061109
NM_001134831.2(AHI1):c.2765-9T>C rs374852342
NM_001134831.2(AHI1):c.2784A>T (p.Glu928Asp) rs538724792
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met) rs370400336
NM_001134831.2(AHI1):c.2962-13G>A
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.2971C>T (p.Arg991Cys)
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3033A>G (p.Ser1011=) rs372030704
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3109+14T>A
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met) rs73559947
NM_001134831.2(AHI1):c.3223G>C (p.Gly1075Arg)
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3291G>A (p.Gln1097=)
NM_001134831.2(AHI1):c.3328A>G (p.Thr1110Ala)
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=) rs199708272
NM_001134831.2(AHI1):c.3365G>A (p.Arg1122Gln)
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
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.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.400C>T (p.Pro134Ser) rs368077581
NM_001134831.2(AHI1):c.43C>T (p.Arg15Cys)
NM_001134831.2(AHI1):c.459A>C (p.Thr153=)
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
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.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_017651.4(AHI1):c.-277G>A rs886061113
NM_017651.4(AHI1):c.-284G>A rs886061114
NM_017651.4(AHI1):c.-286C>G rs533416517
NM_017651.4(AHI1):c.-293G>T rs13197384
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1191G>A
NM_018718.3(CEP41):c.*1205G>T
NM_018718.3(CEP41):c.*1284A>G
NM_018718.3(CEP41):c.*1328T>A
NM_018718.3(CEP41):c.*1336A>G
NM_018718.3(CEP41):c.*1341A>C
NM_018718.3(CEP41):c.*1352G>A
NM_018718.3(CEP41):c.*136T>G
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1512C>T
NM_018718.3(CEP41):c.*1534T>C
NM_018718.3(CEP41):c.*1538A>C
NM_018718.3(CEP41):c.*1567A>C
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*1644A>G
NM_018718.3(CEP41):c.*1646G>A
NM_018718.3(CEP41):c.*1766T>C
NM_018718.3(CEP41):c.*1768G>T
NM_018718.3(CEP41):c.*1773A>G
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*1974A>G
NM_018718.3(CEP41):c.*1981G>A
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*2111A>G
NM_018718.3(CEP41):c.*2116T>C
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2196T>C
NM_018718.3(CEP41):c.*2226G>A
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2481T>A
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*2669A>G
NM_018718.3(CEP41):c.*2709G>A
NM_018718.3(CEP41):c.*2725C>T
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2781A>G
NM_018718.3(CEP41):c.*2786A>C
NM_018718.3(CEP41):c.*2849A>G
NM_018718.3(CEP41):c.*287C>T
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*3040G>A
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
NM_018718.3(CEP41):c.*3097T>C
NM_018718.3(CEP41):c.*3193C>T rs886061989
NM_018718.3(CEP41):c.*3274G>A rs112007936
NM_018718.3(CEP41):c.*333C>T rs886062000
NM_018718.3(CEP41):c.*3451G>A rs144534675
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3541G>A
NM_018718.3(CEP41):c.*3708A>T
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3783T>C
NM_018718.3(CEP41):c.*3856C>T
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*392G>A
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_018718.3(CEP41):c.*409A>C rs782042681
NM_018718.3(CEP41):c.*4216C>T rs187549864
NM_018718.3(CEP41):c.*4244C>G rs544508687
NM_018718.3(CEP41):c.*4295G>C rs4728195
NM_018718.3(CEP41):c.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4322G>A
NM_018718.3(CEP41):c.*4343C>G
NM_018718.3(CEP41):c.*4365G>A rs535299613
NM_018718.3(CEP41):c.*4385C>T
NM_018718.3(CEP41):c.*4391G>A rs782450438
NM_018718.3(CEP41):c.*4417G>A rs886061988
NM_018718.3(CEP41):c.*4464T>C rs886061987
NM_018718.3(CEP41):c.*4505G>T
NM_018718.3(CEP41):c.*4539C>T
NM_018718.3(CEP41):c.*4594C>T
NM_018718.3(CEP41):c.*4595G>A
NM_018718.3(CEP41):c.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
NM_018718.3(CEP41):c.*4714T>C
NM_018718.3(CEP41):c.*4769C>T
NM_018718.3(CEP41):c.*4866C>T rs782719539
NM_018718.3(CEP41):c.*4908G>A rs552988501
NM_018718.3(CEP41):c.*4973C>T rs760160179
NM_018718.3(CEP41):c.*4994T>C rs527933839
NM_018718.3(CEP41):c.*5068G>A rs148856430
NM_018718.3(CEP41):c.*5102G>A rs1990790
NM_018718.3(CEP41):c.*55G>A
NM_018718.3(CEP41):c.*578T>C
NM_018718.3(CEP41):c.*593G>A rs186685101
NM_018718.3(CEP41):c.*614A>G
NM_018718.3(CEP41):c.*655C>T
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*682A>G
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*740C>T
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*776G>A
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*832A>C
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.*881G>A
NM_018718.3(CEP41):c.*927T>C
NM_018718.3(CEP41):c.-41C>T rs886062002
NM_018718.3(CEP41):c.-5A>C rs2287371
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.20T>C (p.Ile7Thr) rs147494464
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.278-15A>C rs142452124
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.289G>A (p.Ala97Thr) rs200516165
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803
NM_018718.3(CEP41):c.422+6C>T rs199678365
NM_018718.3(CEP41):c.53C>T (p.Pro18Leu) rs111688621
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.754G>A (p.Gly252Arg) rs201834429
NM_018718.3(CEP41):c.757+11T>C
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533

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