ClinVar Miner

List of variants studied for Joubert syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_019892.6(INPP5E):c.*328T>C rs35763810 0.41134
NM_019892.6(INPP5E):c.*703A>G rs1128874 0.40097
NM_019892.6(INPP5E):c.*816A>G rs8413 0.40078
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_001134831.2(AHI1):c.*396_*397dup rs397885237 0.11907
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_024753.4(TTC21B):c.-145G>A rs111867313 0.09068
NM_018718.2(CEP41):c.-144G>A rs10230435 0.08654
NM_023073.3(CPLANE1):c.-234G>C rs80164363 0.08017
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_016464.4(TMEM138):c.-308A>G rs7120780 0.04768
NM_001080432.3(FTO):c.18T>C (p.Thr6=) rs73609956 0.02787
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_016464.4(TMEM138):c.-239C>T rs146156958 0.01419
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_019892.6(INPP5E):c.-239C>G rs562519905 0.00588
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_018718.2(CEP41):c.-243G>A rs542293061 0.00425
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_016464.4(TMEM138):c.-479A>C rs192845534 0.00275
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_024753.4(TTC21B):c.-91T>C rs772121352 0.00096
NM_024753.4(TTC21B):c.-107C>T rs545898884 0.00091
NM_018718.3(CEP41):c.*3741A>T rs532169706 0.00076
NM_001044385.3(TMEM237):c.*258del rs558670305 0.00075
NM_019892.6(INPP5E):c.*630G>A rs539039743 0.00071
NM_016464.4(TMEM138):c.-255C>T rs112115349 0.00061
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.*747T>C rs191248562 0.00054
NM_016464.4(TMEM138):c.-294G>A rs775592054 0.00034
NM_019892.6(INPP5E):c.*811G>A rs778109117 0.00031
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_024753.4(TTC21B):c.-94C>T rs563836188 0.00021
NM_019892.6(INPP5E):c.*235A>G rs376604726 0.00020
NM_019892.6(INPP5E):c.-347G>A rs886063716 0.00016
NM_001044385.3(TMEM237):c.*714_*715del rs373844800 0.00014
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.-271C>T rs886063714 0.00011
NM_001134831.2(AHI1):c.*447T>A rs886061106 0.00009
NM_019892.6(INPP5E):c.304G>T (p.Asp102Tyr) rs187724945 0.00009
NM_019892.6(INPP5E):c.1384G>A (p.Ala462Thr) rs200837258 0.00007
NM_015272.5(RPGRIP1L):c.*901A>G rs750903762 0.00006
NM_019892.6(INPP5E):c.1104C>T (p.His368=) rs148592275 0.00006
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_018718.3(CEP41):c.786G>A (p.Pro262=) rs782460743 0.00005
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala) rs200223403 0.00005
NM_019892.6(INPP5E):c.*13G>A rs199734968 0.00004
NM_019892.6(INPP5E):c.*763G>C rs564573606 0.00004
NM_019892.6(INPP5E):c.-175C>T rs868202242 0.00004
NM_019892.6(INPP5E):c.1192G>A (p.Val398Met) rs200033750 0.00004
NM_019892.6(INPP5E):c.1388-5C>T rs187956407 0.00004
NM_024753.4(TTC21B):c.-89C>G rs868157832 0.00004
NM_015272.5(RPGRIP1L):c.3362C>T (p.Pro1121Leu) rs886052093 0.00003
NM_019892.6(INPP5E):c.*913T>C rs886063708 0.00003
NM_019892.6(INPP5E):c.*213C>T rs544203657 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_001378615.1(CC2D2A):c.2486+8A>G rs749186859 0.00001
NM_001384732.1(CPLANE1):c.792T>C (p.Asp264=) rs886060585 0.00001
NM_001384732.1(CPLANE1):c.8830G>C (p.Asp2944His) rs761880579 0.00001
NM_016464.4(TMEM138):c.-304C>A rs548180077 0.00001
NM_019892.6(INPP5E):c.*721C>T rs886063710 0.00001
NM_019892.6(INPP5E):c.-41C>T rs1170873095 0.00001
NM_019892.6(INPP5E):c.1453G>A (p.Gly485Arg) rs768384414 0.00001
NM_019892.6(INPP5E):c.1530C>T (p.Leu510=) rs780119172 0.00001
NM_019892.6(INPP5E):c.1686C>T (p.Ser562=) rs760729838 0.00001
NM_019892.6(INPP5E):c.547C>T (p.Pro183Ser) rs754964359 0.00001
NM_001009894.3(RLIG1):c.*618TATT[1] rs886049876
NM_001009894.3(RLIG1):c.*743_*746del rs142288119
NM_001044385.2(TMEM237):c.-126G>A rs572770188
NM_001044385.3(TMEM237):c.*3513del rs143218667
NM_001044385.3(TMEM237):c.*470_*473del rs886055445
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001128178.3(NPHP1):c.*333AAC[1] rs555468187
NM_001128178.3(NPHP1):c.635AAG[5] (p.Glu215dup) rs777677768
NM_001134831.2(AHI1):c.*1051ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*1116TAT[1] rs886061104
NM_001134831.2(AHI1):c.*500_*504del rs886061105
NM_001142301.1(TMEM67):c.-207del rs145334032
NM_001173990.3(TMEM216):c.230-9G>A rs886048412
NM_001174150.2(ARL13B):c.*1818ATATA[1] rs752990716
NM_001378615.1(CC2D2A):c.2339-10_2339-9del rs886059157
NM_001378615.1(CC2D2A):c.3365C>G (p.Pro1122Arg) rs886059182
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001384732.1(CPLANE1):c.1554A>T (p.Arg518Ser) rs886060583
NM_001384732.1(CPLANE1):c.4190-10_4190-9del rs111508546
NM_001384732.1(CPLANE1):c.7438dup (p.Arg2480fs) rs886060575
NM_001384732.1(CPLANE1):c.8633-3del rs34646696
NM_001384732.1(CPLANE1):c.8663+8_8663+12del rs763664569
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_016464.4(TMEM138):c.-226C>G rs545702620
NM_016464.4(TMEM138):c.-350A>C rs886048406
NM_016464.4(TMEM138):c.-518C>T rs530037192
NM_016464.4(TMEM138):c.-520_-518delTCC rs369988724
NM_016464.5(TMEM138):c.128+15G>A rs886048408
NM_018718.2(CEP41):c.-178C>A rs10230670
NM_018718.2(CEP41):c.-178C>T rs10230670
NM_018718.2(CEP41):c.-244A>T rs886062003
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.*1386dup rs886061997
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_019892.6(INPP5E):c.*484C>G rs1358870988
NM_019892.6(INPP5E):c.*559C>T rs1835639348
NM_019892.6(INPP5E):c.*582C>T rs931605716
NM_019892.6(INPP5E):c.*727C>T rs886063709
NM_019892.6(INPP5E):c.-149C>T rs1386453934
NM_019892.6(INPP5E):c.-343T>C rs886063715
NM_019892.6(INPP5E):c.1009G>C (p.Gly337Arg) rs368235861
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1074G>A (p.Pro358=) rs746782404
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1479G>A (p.Leu493=) rs754015058
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1547A>G (p.Lys516Arg) rs13294000
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.812+3AGGG[3] rs5901103
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_024753.4(TTC21B):c.-75A>C rs886055032
NM_024753.4(TTC21B):c.-82C>G rs543599575
NM_024753.5(TTC21B):c.*1123dup rs886055020
NM_024753.5(TTC21B):c.2569-10dup rs144600502
NM_024753.5(TTC21B):c.95G>A (p.Arg32Lys) rs886055028
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.671C>T (p.Thr224Met) rs376996387
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3309+2_3309+3dup rs886049881
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.7209+11_7209+14del rs750259100
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) rs886063171

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