ClinVar Miner

List of variants studied for Joubert syndrome 1

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ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
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_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_019892.6(INPP5E):c.*926T>C rs1128877 0.10951
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
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_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_019892.6(INPP5E):c.-239C>G rs562519905 0.00588
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
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_025114.4(CEP290):c.1079G>A (p.Arg360Gln) rs188164241 0.00405
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
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_019892.6(INPP5E):c.*630G>A rs539039743 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 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_019892.6(INPP5E):c.1360G>A (p.Asp454Asn) rs138150684 0.00033
NM_019892.6(INPP5E):c.*811G>A rs778109117 0.00031
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_019892.6(INPP5E):c.*235A>G rs376604726 0.00020
NM_019892.6(INPP5E):c.-347G>A rs886063716 0.00016
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791 0.00013
NM_019892.6(INPP5E):c.1136G>A (p.Arg379Lys) rs200518324 0.00012
NM_019892.6(INPP5E):c.-271C>T rs886063714 0.00011
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_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_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.580C>G (p.Pro194Ala) rs200223403 0.00005
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001384732.1(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302 0.00004
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_019892.6(INPP5E):c.510C>G (p.Asn170Lys) rs778210239 0.00004
NM_019892.6(INPP5E):c.*913T>C rs886063708 0.00003
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00002
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
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.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.1407C>T (p.Phe469=) rs377483407 0.00002
NM_019892.6(INPP5E):c.1666-12A>G rs372545147 0.00002
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121 0.00001
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala) rs1019442092 0.00001
NM_001384732.1(CPLANE1):c.9017+1G>A rs863225154 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.1021G>A (p.Gly341Ser) rs780882740 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.1543C>T (p.Arg515Trp) rs13297509 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_025114.4(CEP290):c.3911T>C (p.Met1304Thr) rs761010723 0.00001
NC_000004.11:g.15589466_15589468delGAA rs794729225
NC_000004.11:g.15601250_15601251delCT rs794729226
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His) rs1583276758
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro) rs374009466
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2742del (p.Leu915fs) rs1583179845
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001174150.2(ARL13B):c.486+22del rs368491848
NM_001174150.2(ARL13B):c.486+22dup rs368491848
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs) rs1280425167
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs) rs1305821156
NM_001384732.1(CPLANE1):c.7588+3A>G
NM_001384732.1(CPLANE1):c.9063C>A (p.Tyr3021Ter) rs377142277
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.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1159+16_1159+33del rs1239490197
NM_019892.6(INPP5E):c.1279+14T>C rs886063711
NM_019892.6(INPP5E):c.1312G>C (p.Asp438His) rs1835733198
NM_019892.6(INPP5E):c.136G>A (p.Glu46Lys) rs886063713
NM_019892.6(INPP5E):c.1408G>A (p.Asp470Asn)
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.1649_1651dup (p.Arg550dup) rs778019120
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1762T>C (p.Tyr588His)
NM_019892.6(INPP5E):c.1763A>G (p.Tyr588Cys) rs1564431175
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.1897C>T (p.Gln633Ter) rs763184652
NM_019892.6(INPP5E):c.226dup (p.Ala76fs)
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.856G>A (p.Gly286Arg)
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr) rs1434632102
NM_025114.4(CEP290):c.1522+1G>C rs1592639588
NM_025114.4(CEP290):c.1666del (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.1666dup (p.Ile556fs) rs727503855
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu) rs779010679
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp) rs1592836704
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro) rs778030031
NM_025114.4(CEP290):c.6271-8T>G rs1039146791
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter) rs1592668925
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs) rs1586074742
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu) rs1586090222
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514

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