ClinVar Miner

List of variants reported as uncertain significance 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: 675
Download table as spreadsheet
HGVS dbSNP
NM_000272.4(NPHP1):c.*250C>T rs150558683
NM_000272.4(NPHP1):c.*322A>G rs886054752
NM_000272.4(NPHP1):c.*333_*335AAC[1] rs555468187
NM_000272.4(NPHP1):c.1035A>G (p.Gln345=) rs371112962
NM_000272.4(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.4(NPHP1):c.1333C>T (p.Arg445Cys) rs375907280
NM_000272.4(NPHP1):c.1447G>C (p.Glu483Gln) rs886054753
NM_000272.4(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.4(NPHP1):c.1690G>C (p.Val564Leu) rs573192954
NM_000272.4(NPHP1):c.1889C>T (p.Ser630Leu) rs138181219
NM_000272.4(NPHP1):c.2100C>T (p.Gly700=) rs200631256
NM_000272.4(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.4(NPHP1):c.456A>G (p.Ser152=) rs143163969
NM_000272.4(NPHP1):c.593A>G (p.Asn198Ser) rs886054756
NM_000272.4(NPHP1):c.635_637AAG[5] (p.Glu215dup) rs777677768
NM_000272.4(NPHP1):c.669C>T (p.Gly223=) rs886054755
NM_000272.4(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_000272.4(NPHP1):c.860A>G (p.Asn287Ser) rs139787582
NM_000272.4(NPHP1):c.969G>A (p.Thr323=) rs141763330
NM_000272.4(NPHP1):c.988G>C (p.Gly330Arg) rs886054754
NM_001009894.3(C12orf29):c.*618_*621TATT[1] rs886049876
NM_001009894.3(C12orf29):c.*827G>A rs754398792
NM_001009894.3(C12orf29):c.*837T>C rs765709669
NM_001009894.3(C12orf29):c.*926C>T rs200178519
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.3(TMEM237):c.*1107C>T rs143516209
NM_001044385.3(TMEM237):c.*1108A>G rs758086204
NM_001044385.3(TMEM237):c.*1151C>T rs188943302
NM_001044385.3(TMEM237):c.*1303G>A rs886055444
NM_001044385.3(TMEM237):c.*1378A>G rs886055443
NM_001044385.3(TMEM237):c.*1603T>G rs886055442
NM_001044385.3(TMEM237):c.*1762G>A rs886055441
NM_001044385.3(TMEM237):c.*2044T>C rs886055440
NM_001044385.3(TMEM237):c.*2141C>T rs147652455
NM_001044385.3(TMEM237):c.*2142G>C rs76042698
NM_001044385.3(TMEM237):c.*2431T>G rs142355657
NM_001044385.3(TMEM237):c.*2465A>G rs527921749
NM_001044385.3(TMEM237):c.*2480T>G rs75655554
NM_001044385.3(TMEM237):c.*2582G>T rs886055439
NM_001044385.3(TMEM237):c.*258del rs558670305
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.*3013A>G rs886055437
NM_001044385.3(TMEM237):c.*308T>G rs185380807
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.*3513del rs143218667
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.*4020T>A rs886055435
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.*492T>C rs530304720
NM_001044385.3(TMEM237):c.*714_*715del rs373844800
NM_001044385.3(TMEM237):c.*987C>T rs568084746
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.1115C>G (p.Ser372Cys) rs886055447
NM_001044385.3(TMEM237):c.439G>A (p.Val147Ile) rs200531617
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_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*45G>C rs372449768
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1821T>C (p.Ile607=) rs373296447
NM_001080522.2(CC2D2A):c.1827G>A (p.Glu609=) rs886059138
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1946C>G (p.Thr649Arg) rs201884883
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2133G>C (p.Gln711His) rs886059139
NM_001080522.2(CC2D2A):c.2339-10_2339-9delGT rs886059157
NM_001080522.2(CC2D2A):c.2482C>T (p.Arg828Trp) rs749997192
NM_001080522.2(CC2D2A):c.2486+8A>G rs749186859
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2526A>G (p.Thr842=) rs886059158
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001080522.2(CC2D2A):c.3398+13T>C rs886059183
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3499G>A (p.Asp1167Asn) rs371998498
NM_001080522.2(CC2D2A):c.3524A>G (p.His1175Arg) rs886059184
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.389G>T (p.Arg130Leu) rs778519147
NM_001080522.2(CC2D2A):c.4005T>A (p.Ile1335=) rs199688524
NM_001080522.2(CC2D2A):c.4098A>C (p.Glu1366Asp) rs557038070
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4442A>C (p.Glu1481Ala) rs886059185
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4675-12T>G rs769761582
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001082538.2(TCTN1):c.-140A>G rs886048956
NM_001082538.2(TCTN1):c.-84T>C rs886048957
NM_001082538.3(TCTN1):c.-46G>C rs538932401
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.14G>A (p.Gly5Asp) rs572300029
NM_001082538.3(TCTN1):c.1676C>T (p.Ala559Val) rs373723058
NM_001082538.3(TCTN1):c.211G>A (p.Val71Ile) rs776696098
NM_001082538.3(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.364C>A (p.Gln122Lys) rs886048958
NM_001082538.3(TCTN1):c.574T>A (p.Tyr192Asn) rs370252911
NM_001082538.3(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001082538.3(TCTN1):c.987C>T (p.Tyr329=) rs371066430
NM_001134831.2(AHI1):c.*110G>A rs370861733
NM_001134831.2(AHI1):c.*1116_*1118TAT[1] rs886061104
NM_001134831.2(AHI1):c.*1288T>C rs886061103
NM_001134831.2(AHI1):c.*1317A>G rs886061102
NM_001134831.2(AHI1):c.*1426A>T rs886061101
NM_001134831.2(AHI1):c.*1646T>C rs886061100
NM_001134831.2(AHI1):c.*387T>G rs886061107
NM_001134831.2(AHI1):c.*447T>A rs886061106
NM_001134831.2(AHI1):c.*500_*504del rs886061105
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.-214C>T rs183265971
NM_001134831.2(AHI1):c.1311T>G (p.Ser437=) rs886061112
NM_001134831.2(AHI1):c.1627-6A>G rs886061111
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030
NM_001134831.2(AHI1):c.1788T>C (p.Arg596=) rs548478362
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.2357A>G (p.His786Arg) rs886061110
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
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.2814A>G (p.Pro938=) rs775305093
NM_001134831.2(AHI1):c.282G>A (p.Thr94=) rs760858792
NM_001134831.2(AHI1):c.2962-3T>C rs369713977
NM_001134831.2(AHI1):c.3486-4A>G rs534053819
NM_001134831.2(AHI1):c.3542G>A (p.Arg1181Gln) rs200368187
NM_001134831.2(AHI1):c.612T>G (p.Ile204Met) rs781286716
NM_001134831.2(AHI1):c.73G>A (p.Asp25Asn) rs201590073
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_001161454.1(CYB561A3):c.-538_-536del rs369988724
NM_001161454.1(CYB561A3):c.-539G>A rs530037192
NM_001161454.1(CYB561A3):c.-578T>G rs192845534
NM_001161454.1(CYB561A3):c.-707T>G rs886048406
NM_001161454.1(CYB561A3):c.-753G>T rs548180077
NM_001161454.1(CYB561A3):c.-763C>T rs775592054
NM_001173990.3(TMEM216):c.*107G>T rs535550368
NM_001173990.3(TMEM216):c.*21A>G rs111371929
NM_001173990.3(TMEM216):c.*247C>T rs886048413
NM_001173990.3(TMEM216):c.*335G>A rs886048414
NM_001173990.3(TMEM216):c.*372C>T rs565159932
NM_001173990.3(TMEM216):c.*444T>C rs116047887
NM_001173990.3(TMEM216):c.*93T>C rs746881860
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.-24C>T rs59493015
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001173990.3(TMEM216):c.289T>A (p.Phe97Ile) rs201614099
NM_001173990.3(TMEM216):c.344G>A (p.Arg115His) rs752216307
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173991.2(TMEM216):c.-242C>T rs756981776
NM_001174150.2(ARL13B):c.*1001A>C rs538413974
NM_001174150.2(ARL13B):c.*1654T>C rs886058935
NM_001174150.2(ARL13B):c.*1718G>A rs183639595
NM_001174150.2(ARL13B):c.*1775G>A rs563142267
NM_001174150.2(ARL13B):c.*1818_*1822ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.*1826T>C rs548945864
NM_001174150.2(ARL13B):c.*194A>C rs370306318
NM_001174150.2(ARL13B):c.*2009T>C rs538221197
NM_001174150.2(ARL13B):c.*2026T>C rs571746079
NM_001174150.2(ARL13B):c.*2297T>C rs149269561
NM_001174150.2(ARL13B):c.*2316G>A rs757759984
NM_001174150.2(ARL13B):c.*2318G>A rs571764907
NM_001174150.2(ARL13B):c.*2363C>G rs146137797
NM_001174150.2(ARL13B):c.*272C>T rs886058933
NM_001174150.2(ARL13B):c.*2C>T rs377420487
NM_001174150.2(ARL13B):c.*357A>G rs561009587
NM_001174150.2(ARL13B):c.*393T>C rs530141372
NM_001174150.2(ARL13B):c.*765T>G rs886058934
NM_001174150.2(ARL13B):c.-157T>C rs745658300
NM_001174150.2(ARL13B):c.-263C>T rs143828740
NM_001174150.2(ARL13B):c.-40T>G rs886058931
NM_001174150.2(ARL13B):c.-50C>A rs199505618
NM_001174150.2(ARL13B):c.-92G>T rs754026490
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr) rs886058932
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842
NM_001174150.2(ARL13B):c.690-10C>T rs373752093
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243
NM_001257159.1(CEP41):c.-178C>A rs10230670
NM_001257159.1(CEP41):c.-243G>A rs542293061
NM_001257159.1(CEP41):c.-244A>T rs886062003
NM_015272.4(RPGRIP1L):c.3617-13dupT rs750499169
NM_015272.5(RPGRIP1L):c.*1035T>C rs763384255
NM_015272.5(RPGRIP1L):c.*119C>T rs886052091
NM_015272.5(RPGRIP1L):c.*1207G>A rs561880798
NM_015272.5(RPGRIP1L):c.*1309C>A rs145688896
NM_015272.5(RPGRIP1L):c.*1482G>A rs192765976
NM_015272.5(RPGRIP1L):c.*1584G>T rs151226475
NM_015272.5(RPGRIP1L):c.*1627G>A rs188203905
NM_015272.5(RPGRIP1L):c.*1883C>G rs886052086
NM_015272.5(RPGRIP1L):c.*262G>A rs563237818
NM_015272.5(RPGRIP1L):c.*269C>T rs190566840
NM_015272.5(RPGRIP1L):c.*270G>A rs549065732
NM_015272.5(RPGRIP1L):c.*332T>G rs544840421
NM_015272.5(RPGRIP1L):c.*418G>A rs886052090
NM_015272.5(RPGRIP1L):c.*506T>G rs778362441
NM_015272.5(RPGRIP1L):c.*532T>C rs184520009
NM_015272.5(RPGRIP1L):c.*626A>C rs886052089
NM_015272.5(RPGRIP1L):c.*698T>C rs545786772
NM_015272.5(RPGRIP1L):c.*875A>G rs886052088
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762
NM_015272.5(RPGRIP1L):c.*980T>C rs886052087
NM_015272.5(RPGRIP1L):c.-62C>T rs562413151
NM_015272.5(RPGRIP1L):c.-7-10T>C rs886052099
NM_015272.5(RPGRIP1L):c.-9C>T rs779839225
NM_015272.5(RPGRIP1L):c.1085A>G (p.Tyr362Cys) rs144023021
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921
NM_015272.5(RPGRIP1L):c.1331G>A (p.Arg444His) rs76600508
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1584G>A (p.Met528Ile) rs886052097
NM_015272.5(RPGRIP1L):c.1682G>A (p.Arg561His) rs147366111
NM_015272.5(RPGRIP1L):c.171G>T (p.Leu57Phe) rs146925098
NM_015272.5(RPGRIP1L):c.1736A>G (p.Tyr579Cys) rs148230131
NM_015272.5(RPGRIP1L):c.1810G>A (p.Glu604Lys) rs143863631
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.5(RPGRIP1L):c.217G>C (p.Asp73His) rs369451829
NM_015272.5(RPGRIP1L):c.2201G>A (p.Arg734Gln) rs117364872
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.5(RPGRIP1L):c.2327C>T (p.Thr776Ile) rs771545136
NM_015272.5(RPGRIP1L):c.2414G>A (p.Arg805Gln) rs532412372
NM_015272.5(RPGRIP1L):c.251G>A (p.Arg84Gln) rs151212590
NM_015272.5(RPGRIP1L):c.2537T>C (p.Val846Ala) rs750235612
NM_015272.5(RPGRIP1L):c.2565C>T (p.Tyr855=) rs886052096
NM_015272.5(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.5(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.2926T>A (p.Ser976Thr) rs886052095
NM_015272.5(RPGRIP1L):c.293G>T (p.Gly98Val) rs886052098
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.5(RPGRIP1L):c.303G>A (p.Arg101=) rs182207372
NM_015272.5(RPGRIP1L):c.3153G>T (p.Gln1051His) rs886052094
NM_015272.5(RPGRIP1L):c.3179C>T (p.Ser1060Phe) rs371616177
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093
NM_015272.5(RPGRIP1L):c.3562G>A (p.Val1188Met) rs142317242
NM_015272.5(RPGRIP1L):c.3578C>T (p.Pro1193Leu) rs886052092
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3839T>C (p.Phe1280Ser) rs377402117
NM_015272.5(RPGRIP1L):c.3882A>G (p.Val1294=) rs759935029
NM_015272.5(RPGRIP1L):c.444T>C (p.Thr148=) rs202149647
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-239C>T rs146156958
NM_016464.4(TMEM138):c.-255C>T rs112115349
NM_016464.5(TMEM138):c.*228C>G rs536120944
NM_016464.5(TMEM138):c.*264C>G rs886048409
NM_016464.5(TMEM138):c.*407G>C rs886048410
NM_016464.5(TMEM138):c.*92G>C rs372997712
NM_016464.5(TMEM138):c.-157C>G rs779029696
NM_016464.5(TMEM138):c.-164T>C rs886048407
NM_016464.5(TMEM138):c.-169C>T rs553390222
NM_016464.5(TMEM138):c.-24G>A rs116455434
NM_016464.5(TMEM138):c.-71G>A rs199532763
NM_016464.5(TMEM138):c.128+15G>A rs886048408
NM_016464.5(TMEM138):c.247A>G (p.Ile83Val) rs200399046
NM_016464.5(TMEM138):c.308G>A (p.Arg103His) rs781769843
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247
NM_016464.5(TMEM138):c.352A>T (p.Met118Leu) rs774141923
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473
NM_016464.5(TMEM138):c.420A>G (p.Arg140=) rs548368196
NM_016464.5(TMEM138):c.482G>A (p.Arg161Gln) rs569659022
NM_016499.5(TMEM216):c.-288G>A rs557559653
NM_016499.5(TMEM216):c.-325A>C rs886048411
NM_016499.5(TMEM216):c.-332T>C rs183785901
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_018718.3(CEP41):c.*1056A>C rs574982700
NM_018718.3(CEP41):c.*1357del rs886061999
NM_018718.3(CEP41):c.*1384del rs55776575
NM_018718.3(CEP41):c.*1384dup rs55776575
NM_018718.3(CEP41):c.*1385T>G rs781845516
NM_018718.3(CEP41):c.*1386dup rs886061997
NM_018718.3(CEP41):c.*1411G>T rs886061996
NM_018718.3(CEP41):c.*1579T>C rs554826749
NM_018718.3(CEP41):c.*2159C>T rs886061995
NM_018718.3(CEP41):c.*2194C>T rs886061994
NM_018718.3(CEP41):c.*2386A>G rs886061993
NM_018718.3(CEP41):c.*2389G>A rs73152867
NM_018718.3(CEP41):c.*2482A>T rs189091601
NM_018718.3(CEP41):c.*2605C>T rs886061992
NM_018718.3(CEP41):c.*277A>G rs886062001
NM_018718.3(CEP41):c.*2896G>A rs147207980
NM_018718.3(CEP41):c.*3044A>G rs886061991
NM_018718.3(CEP41):c.*3069T>C rs886061990
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.*3741A>T rs532169706
NM_018718.3(CEP41):c.*3965A>G rs781992723
NM_018718.3(CEP41):c.*4007C>T rs782719854
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.*4314T>C rs114939029
NM_018718.3(CEP41):c.*4365G>A rs535299613
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.*4599A>G rs753024852
NM_018718.3(CEP41):c.*4659C>G rs886061986
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.*593G>A rs186685101
NM_018718.3(CEP41):c.*680G>A rs146622910
NM_018718.3(CEP41):c.*705G>A rs782543502
NM_018718.3(CEP41):c.*747G>A rs782582354
NM_018718.3(CEP41):c.*805A>G rs145808545
NM_018718.3(CEP41):c.*859G>A rs781930185
NM_018718.3(CEP41):c.-41C>T rs886062002
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.208-5A>G rs11765434
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.786G>A (p.Pro262=) rs782460743
NM_018718.3(CEP41):c.988G>C (p.Ala330Pro) rs368525533
NM_019892.5(INPP5E):c.812+7_812+10dupAGGG rs5901103
NM_019892.6(INPP5E):c.*235A>G rs376604726
NM_019892.6(INPP5E):c.*630G>A rs539039743
NM_019892.6(INPP5E):c.*721C>T rs886063710
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.*747T>C rs191248562
NM_019892.6(INPP5E):c.*763G>C rs564573606
NM_019892.6(INPP5E):c.*913T>C rs886063708
NM_019892.6(INPP5E):c.-174G>A rs544247720
NM_019892.6(INPP5E):c.-239C>G rs562519905
NM_019892.6(INPP5E):c.-271C>T rs886063714
NM_019892.6(INPP5E):c.-31G>C rs554931078
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.-347G>A rs886063716
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258
NM_019892.6(INPP5E):c.1388-5C>T rs187956407
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.6(INPP5E):c.1550-14C>T rs181576122
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_020785.2(CC2D2A):c.-212T>C rs886059135
NM_020785.2(CC2D2A):c.-32G>A rs183968785
NM_020785.2(CC2D2A):c.10A>G (p.Arg4Gly) rs758963962
NM_023073.3(CPLANE1):c.*1318A>G rs145399031
NM_023073.3(CPLANE1):c.*1369C>A rs116197379
NM_023073.3(CPLANE1):c.*18G>T rs200332492
NM_023073.3(CPLANE1):c.*396T>C rs115541718
NM_023073.3(CPLANE1):c.*423C>G rs190089842
NM_023073.3(CPLANE1):c.*465G>A rs886060570
NM_023073.3(CPLANE1):c.*518T>C rs556117030
NM_023073.3(CPLANE1):c.*642G>A rs543018376
NM_023073.3(CPLANE1):c.*661T>G rs886060569
NM_023073.3(CPLANE1):c.*807A>G rs78011227
NM_023073.3(CPLANE1):c.*872A>C rs886060568
NM_023073.3(CPLANE1):c.*94G>T rs886060571
NM_023073.3(CPLANE1):c.-151C>T rs769827950
NM_023073.3(CPLANE1):c.1116G>A (p.Thr372=) rs551066377
NM_023073.3(CPLANE1):c.1123C>T (p.Pro375Ser) rs774016809
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782
NM_023073.3(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_023073.3(CPLANE1):c.1680G>A (p.Glu560=) rs749473632
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1872C>T (p.Ser624=) rs886060582
NM_023073.3(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451
NM_023073.3(CPLANE1):c.2428T>G (p.Cys810Gly) rs886060581
NM_023073.3(CPLANE1):c.2558C>A (p.Ala853Asp) rs886060580
NM_023073.3(CPLANE1):c.3090G>A (p.Thr1030=) rs768564404
NM_023073.3(CPLANE1):c.3450C>T (p.Phe1150=) rs200449169
NM_023073.3(CPLANE1):c.3595C>T (p.Arg1199Trp) rs374075447
NM_023073.3(CPLANE1):c.361T>C (p.Tyr121His) rs886060587
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4306C>T (p.Pro1436Ser) rs183021118
NM_023073.3(CPLANE1):c.4379G>C (p.Ser1460Thr) rs886060579
NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4719C>T (p.Asp1573=) rs143084362
NM_023073.3(CPLANE1):c.4765C>T (p.Leu1589Phe) rs751890710
NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938
NM_023073.3(CPLANE1):c.5054T>C (p.Ile1685Thr) rs750439635
NM_023073.3(CPLANE1):c.5152A>G (p.Ile1718Val) rs886060578
NM_023073.3(CPLANE1):c.523A>G (p.Thr175Ala) rs886060586
NM_023073.3(CPLANE1):c.5311T>C (p.Tyr1771His) rs748355456
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5593A>C (p.Asn1865His) rs199524299
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6125A>C (p.Glu2042Ala) rs766565364
NM_023073.3(CPLANE1):c.626A>G (p.Lys209Arg) rs770630520
NM_023073.3(CPLANE1):c.6443A>G (p.Asn2148Ser) rs150999024
NM_023073.3(CPLANE1):c.6456C>T (p.Asn2152=) rs186460995
NM_023073.3(CPLANE1):c.662T>C (p.Val221Ala) rs370118778
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.7095A>G (p.Pro2365=) rs886060577
NM_023073.3(CPLANE1):c.7099A>G (p.Lys2367Glu) rs778278672
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7298T>C (p.Leu2433Pro) rs372655878
NM_023073.3(CPLANE1):c.7331G>A (p.Gly2444Glu) rs751548147
NM_023073.3(CPLANE1):c.7360G>A (p.Glu2454Lys) rs867750018
NM_023073.3(CPLANE1):c.7417G>A (p.Glu2473Lys) rs886060576
NM_023073.3(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_023073.3(CPLANE1):c.7478G>T (p.Arg2493Leu) rs183942272
NM_023073.3(CPLANE1):c.7588+8T>C rs377295986
NM_023073.3(CPLANE1):c.7596A>G (p.Leu2532=) rs201502145
NM_023073.3(CPLANE1):c.7860G>A (p.Gln2620=) rs750429337
NM_023073.3(CPLANE1):c.7866C>T (p.Ser2622=) rs141486731
NM_023073.3(CPLANE1):c.7901A>G (p.His2634Arg) rs373755833
NM_023073.3(CPLANE1):c.792T>C (p.Asp264=) rs886060585
NM_023073.3(CPLANE1):c.7930G>C (p.Val2644Leu) rs772274656
NM_023073.3(CPLANE1):c.8035C>T (p.Arg2679Trp) rs142792453
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8352T>C (p.Thr2784=) rs760623510
NM_023073.3(CPLANE1):c.8377G>C (p.Glu2793Gln) rs886060574
NM_023073.3(CPLANE1):c.8501+8_8501+12delTCTTA rs763664569
NM_023073.3(CPLANE1):c.8508A>G (p.Ser2836=) rs886060573
NM_023073.3(CPLANE1):c.8512C>T (p.His2838Tyr) rs201404524
NM_023073.3(CPLANE1):c.8516C>T (p.Pro2839Leu) rs147426388
NM_023073.3(CPLANE1):c.8549A>G (p.Asp2850Gly) rs144427399
NM_023073.3(CPLANE1):c.8668G>C (p.Asp2890His) rs761880579
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8854A>G (p.Arg2952Gly) rs116198390
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.9090G>A (p.Pro3030=) rs371595122
NM_023073.3(CPLANE1):c.9101A>G (p.His3034Arg) rs547370426
NM_023073.3(CPLANE1):c.9412C>G (p.Leu3138Val) rs886060572
NM_023073.3(CPLANE1):c.959T>C (p.Ile320Thr) rs886060584
NM_024753.4(TTC21B):c.-107C>T rs545898884
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.4(TTC21B):c.-89C>G rs868157832
NM_024753.4(TTC21B):c.-91T>C rs772121352
NM_024753.4(TTC21B):c.-94C>T rs563836188
NM_024753.5(TTC21B):c.*1087A>T rs150328867
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.*246G>A rs759810831
NM_024753.5(TTC21B):c.*419C>A rs886055024
NM_024753.5(TTC21B):c.*451G>C rs886055023
NM_024753.5(TTC21B):c.*460T>C rs537286454
NM_024753.5(TTC21B):c.*473C>G rs763021259
NM_024753.5(TTC21B):c.*516C>T rs185578095
NM_024753.5(TTC21B):c.*540T>C rs534739269
NM_024753.5(TTC21B):c.*544A>G rs565605248
NM_024753.5(TTC21B):c.*593G>A rs886055022
NM_024753.5(TTC21B):c.*642C>T rs547612425
NM_024753.5(TTC21B):c.*656G>A rs180737925
NM_024753.5(TTC21B):c.*680C>T rs746664114
NM_024753.5(TTC21B):c.*730A>C rs886055021
NM_024753.5(TTC21B):c.*847A>C rs138656848
NM_024753.5(TTC21B):c.*910C>T rs745335688
NM_024753.5(TTC21B):c.-16C>G rs886055030
NM_024753.5(TTC21B):c.-17C>T rs572065013
NM_024753.5(TTC21B):c.-18C>T rs187707893
NM_024753.5(TTC21B):c.-64G>A rs886055031
NM_024753.5(TTC21B):c.1448C>A (p.Thr483Asn) rs142887208
NM_024753.5(TTC21B):c.1478A>G (p.Gln493Arg) rs748993825
NM_024753.5(TTC21B):c.14A>C (p.Glu5Ala) rs778812789
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.5(TTC21B):c.1578T>C (p.Ala526=) rs573290536
NM_024753.5(TTC21B):c.1609T>C (p.Leu537=) rs200916824
NM_024753.5(TTC21B):c.1650A>G (p.Glu550=) rs145926679
NM_024753.5(TTC21B):c.1732G>C (p.Glu578Gln) rs377128320
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.5(TTC21B):c.19A>G (p.Lys7Glu) rs375721812
NM_024753.5(TTC21B):c.2100G>A (p.Lys700=) rs368202285
NM_024753.5(TTC21B):c.2227G>A (p.Val743Ile) rs183367929
NM_024753.5(TTC21B):c.2259G>A (p.Pro753=) rs570679271
NM_024753.5(TTC21B):c.2472G>A (p.Leu824=) rs114725374
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989
NM_024753.5(TTC21B):c.2622T>G (p.Asp874Glu) rs886055026
NM_024753.5(TTC21B):c.2777G>A (p.Arg926Gln) rs747246700
NM_024753.5(TTC21B):c.2815C>T (p.Arg939Trp) rs151227843
NM_024753.5(TTC21B):c.2895A>T (p.Lys965Asn) rs146201603
NM_024753.5(TTC21B):c.2901C>G (p.Asp967Glu) rs886055025
NM_024753.5(TTC21B):c.3042A>G (p.Lys1014=) rs755454992
NM_024753.5(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.5(TTC21B):c.3873+10T>A rs779470575
NM_024753.5(TTC21B):c.38A>G (p.Tyr13Cys) rs184586093
NM_024753.5(TTC21B):c.3914A>G (p.Asp1305Gly) rs147540469
NM_024753.5(TTC21B):c.481A>G (p.Thr161Ala) rs568969576
NM_024753.5(TTC21B):c.63T>C (p.His21=) rs886055029
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.5(TTC21B):c.793A>C (p.Lys265Gln) rs886055027
NM_024753.5(TTC21B):c.795+3A>G rs753275145
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024809.5(TCTN2):c.*166T>G rs886049057
NM_024809.5(TCTN2):c.*258G>C rs540710300
NM_024809.5(TCTN2):c.*45G>A rs142969969
NM_024809.5(TCTN2):c.*587C>T rs548909798
NM_024809.5(TCTN2):c.-15C>T rs575728856
NM_024809.5(TCTN2):c.-55C>A rs78846567
NM_024809.5(TCTN2):c.1712C>T (p.Ser571Leu) rs372687837
NM_024809.5(TCTN2):c.1818C>G (p.His606Gln) rs778418417
NM_024809.5(TCTN2):c.1848C>T (p.Ser616=) rs201834126
NM_024809.5(TCTN2):c.1886C>G (p.Pro629Arg) rs886049056
NM_024809.5(TCTN2):c.202A>G (p.Ile68Val) rs137939978
NM_024809.5(TCTN2):c.500C>T (p.Pro167Leu) rs201140519
NM_024809.5(TCTN2):c.523T>G (p.Leu175Val) rs768824874
NM_024809.5(TCTN2):c.564+3A>C rs761089886
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907
NM_024809.5(TCTN2):c.588G>A (p.Thr196=) rs201545344
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.668C>T (p.Thr223Met) rs145374149
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_024809.5(TCTN2):c.677G>A (p.Arg226His) rs774785140
NM_024809.5(TCTN2):c.776A>G (p.Gln259Arg) rs151318349
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.813A>C (p.Ala271=) rs886049054
NM_024809.5(TCTN2):c.887C>T (p.Pro296Leu) rs750458642
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.892G>C (p.Val298Leu) rs886049055
NM_025114.3(CEP290):c.-118C>G rs886049887
NM_025114.3(CEP290):c.-147A>T rs753567406
NM_025114.3(CEP290):c.-208C>T rs551070690
NM_025114.3(CEP290):c.-235T>G rs569632834
NM_025114.3(CEP290):c.-295T>C rs374616539
NM_025114.3(CEP290):c.-33G>T rs139415563
NM_025114.3(CEP290):c.-38G>C rs886049886
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.-96C>T rs528270888
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1345A>G (p.Lys449Glu) rs747463477
NM_025114.3(CEP290):c.1359G>A (p.Ser453=) rs779195306
NM_025114.3(CEP290):c.1549T>C (p.Leu517=) rs752942122
NM_025114.3(CEP290):c.1623+10G>A rs377529198
NM_025114.3(CEP290):c.1623+10G>T rs377529198
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1908A>T (p.Lys636Asn) rs199747962
NM_025114.3(CEP290):c.1921G>C (p.Val641Leu) rs886049883
NM_025114.3(CEP290):c.2174A>C (p.Glu725Ala) rs375038986
NM_025114.3(CEP290):c.2217+3G>A rs765291878
NM_025114.3(CEP290):c.2447G>A (p.Arg816His) rs768448895
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2861A>G (p.Asp954Gly) rs886049882
NM_025114.3(CEP290):c.31A>G (p.Met11Val) rs185939120
NM_025114.3(CEP290):c.3230A>G (p.Gln1077Arg) rs200668620
NM_025114.3(CEP290):c.3309+3_3309+4dupTT rs886049881
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-15T>A rs565414938
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.3950A>C (p.Lys1317Thr) rs778137534
NM_025114.3(CEP290):c.4064G>A (p.Arg1355His) rs548558619
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4250A>G (p.Gln1417Arg) rs201504946
NM_025114.3(CEP290):c.4257C>A (p.Asp1419Glu) rs771898047
NM_025114.3(CEP290):c.4293G>A (p.Ala1431=) rs377614744
NM_025114.3(CEP290):c.442-11delT rs199511358
NM_025114.3(CEP290):c.442-11dupT rs199511358
NM_025114.3(CEP290):c.442-12_442-11dupTT rs199511358
NM_025114.3(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579
NM_025114.3(CEP290):c.4754A>G (p.His1585Arg) rs199826787
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.4854G>T (p.Lys1618Asn) rs747852436
NM_025114.3(CEP290):c.5023A>G (p.Asn1675Asp) rs886049880
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5055G>A (p.Ala1685=) rs73192874
NM_025114.3(CEP290):c.5099A>G (p.Glu1700Gly) rs886049879
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5227-14delT rs747878752
NM_025114.3(CEP290):c.5284C>T (p.Arg1762Cys) rs373307908
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5338G>A (p.Val1780Ile) rs368492668
NM_025114.3(CEP290):c.54G>A (p.Leu18=) rs886049885
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5543A>G (p.Asp1848Gly) rs563967678
NM_025114.3(CEP290):c.5587-8T>C rs886049878
NM_025114.3(CEP290):c.5709+12A>G rs371010287
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.5842G>T (p.Asp1948Tyr) rs886049877
NM_025114.3(CEP290):c.5998A>G (p.Ile2000Val) rs183071230
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.7209+11_7209+14delATTA rs750259100
NM_025114.3(CEP290):c.7209+7T>G rs745813087
NM_025114.3(CEP290):c.942+6T>G rs886049884
NM_153704.5(TMEM67):c.*1434T>C rs886063178
NM_153704.5(TMEM67):c.*1653G>A rs544858713
NM_153704.5(TMEM67):c.*179T>C rs886063174
NM_153704.5(TMEM67):c.*218T>C rs886063175
NM_153704.5(TMEM67):c.*300G>A rs886063176
NM_153704.5(TMEM67):c.*852C>T rs114214029
NM_153704.5(TMEM67):c.*853G>A rs191740525
NM_153704.5(TMEM67):c.*941T>C rs112317911
NM_153704.5(TMEM67):c.*942G>A rs886063177
NM_153704.5(TMEM67):c.-33del rs145334032
NM_153704.5(TMEM67):c.119_124CTTTCC[3] (p.Pro42_Phe43dup) rs886063171
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.137C>T (p.Pro46Leu) rs199708882
NM_153704.5(TMEM67):c.1446C>T (p.Asn482=) rs774288177
NM_153704.5(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330
NM_153704.5(TMEM67):c.1700A>C (p.Tyr567Ser) rs148726767
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2299G>A (p.Val767Ile) rs201949664
NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) rs886038738
NM_153704.5(TMEM67):c.2556+4T>G rs772449181
NM_153704.5(TMEM67):c.2556+5G>C rs886063172
NM_153704.5(TMEM67):c.2570C>G (p.Ala857Gly) rs201393025
NM_153704.5(TMEM67):c.2924G>A (p.Arg975His) rs191759530
NM_153704.5(TMEM67):c.2928T>C (p.Asn976=) rs369812327
NM_153704.5(TMEM67):c.2975G>T (p.Arg992Ile) rs886063173
NM_153704.5(TMEM67):c.29C>T (p.Ala10Val) rs146838062
NM_153704.5(TMEM67):c.77T>C (p.Leu26Pro) rs886063170
NM_153704.5(TMEM67):c.869+9A>G rs372597584

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.