ClinVar Miner

List of variants reported as likely benign for Joubert syndrome 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_000272.4(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.4(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_001009894.3(C12orf29):c.*743_*746del rs142288119
NM_001044385.3(TMEM237):c.-12G>A rs113186360
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.220+12G>C rs76843552
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.*396_*397dup rs397885237
NM_001134831.2(AHI1):c.-299G>A rs113052089
NM_001134831.2(AHI1):c.1152-11T>G rs113317693
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001161454.1(CYB561A3):c.-749T>C rs7120780
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001174150.2(ARL13B):c.*1136A>G rs78386221
NM_001174150.2(ARL13B):c.*1705T>C rs567211919
NM_001174150.2(ARL13B):c.*703C>T rs75280469
NM_001174150.2(ARL13B):c.-234G>T rs114936013
NM_001174150.2(ARL13B):c.-257C>T rs73846074
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_001257159.1(CEP41):c.-144G>A rs10230435
NM_001257159.1(CEP41):c.-178C>T rs10230670
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_018718.3(CEP41):c.*1859G>T rs73152869
NM_018718.3(CEP41):c.*1931C>T rs17133175
NM_018718.3(CEP41):c.*2041G>A rs73152868
NM_018718.3(CEP41):c.*3507C>T rs149385617
NM_018718.3(CEP41):c.*3765G>T rs138768326
NM_018718.3(CEP41):c.*3887C>G rs62471754
NM_018718.3(CEP41):c.*4037A>G rs7793239
NM_019892.6(INPP5E):c.*926T>C rs1128877
NM_019892.6(INPP5E):c.*98G>A rs35873563
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1388-13C>T rs78828148
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_023073.3(CPLANE1):c.*441A>C rs7712558
NM_023073.3(CPLANE1):c.*641C>T rs116744214
NM_023073.3(CPLANE1):c.*889A>G rs75549748
NM_023073.3(CPLANE1):c.-234G>C rs80164363
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.4190-10_4190-9del rs111508546
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.8212-15G>A rs74881219
NM_023073.3(CPLANE1):c.8471-3del rs34646696
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
NM_024753.5(TTC21B):c.*105G>A rs74548052
NM_024753.5(TTC21B):c.*1105G>T rs6756388
NM_024753.5(TTC21B):c.*517G>A rs77199262
NM_024753.5(TTC21B):c.*531A>G rs56115495
NM_024753.5(TTC21B):c.*878A>G rs62177807
NM_024753.5(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.5(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.5(TTC21B):c.2211+13A>G rs73969727
NM_024753.5(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.5(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.5(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024809.5(TCTN2):c.*155G>A rs12811354
NM_024809.5(TCTN2):c.*412T>C rs112525270
NM_024809.5(TCTN2):c.*468C>T rs7398298
NM_024809.5(TCTN2):c.*87C>T rs113292231
NM_024809.5(TCTN2):c.-95G>A rs7980060
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221

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