ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 144
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HGVS dbSNP
NC_000004.12:g.(?_15478723)_(15480827_?)del
NC_000006.12:g.(?_135429882)_(135433256_?)del
NC_000006.12:g.(?_135457583)_(135465286_?)del
NC_000023.11:g.(?_13735052)_(13744539_?)del
NC_000023.11:g.(?_13735052)_(13769128_?)del
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.4179+1delG (p.Gly1394Valfs) rs386833760
NM_001080522.2(CC2D2A):c.4465_4468delGACA (p.Asp1489Lysfs) rs797045437
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001134831.1(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.1(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.1(AHI1):c.1677dup (p.Pro560Thrfs) rs1554350503
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.737_738insC (p.Glu246Aspfs) rs863225209
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001244189.1(KIAA0586):c.428delG (p.Arg143Lysfs) rs534542684
NM_001286577.1(C2CD3):c.184C>T (p.Arg62Ter) rs587777653
NM_001286577.1(C2CD3):c.4951+1G>T rs863225151
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_003611.2(OFD1):c.1313C>G (p.Ser438Ter)
NM_003611.2(OFD1):c.2126_2129delAAAG (p.Glu709Glyfs) rs312262890
NM_003611.2(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.2(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.2(OFD1):c.2789_2793delTAAAA (p.Ile930Lysfs) rs797044945
NM_003611.2(OFD1):c.560dup (p.Tyr187Terfs) rs1555902640
NM_003611.2(OFD1):c.710delA (p.Lys237Serfs) rs312262845
NM_003611.2(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.2(OFD1):c.915_916delAA (p.Arg306Serfs)
NM_003611.3(OFD1):c.2746dup (p.Tyr916Leufs)
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter)
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter)
NM_014804.2(KIAA0753):c.1271del (p.Pro424Hisfs) rs1555531363
NM_014804.2(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340
NM_014804.2(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882
NM_015272.2(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.4(RPGRIP1L):c.1072_1073dupTT (p.Leu358Phefs) rs1060501006
NM_015272.4(RPGRIP1L):c.1120delC (p.His374Metfs) rs878855006
NM_015272.4(RPGRIP1L):c.1329dup (p.Arg444Thrfs)
NM_015272.4(RPGRIP1L):c.1709dupA (p.Asp571Glyfs) rs778149316
NM_015272.4(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.4(RPGRIP1L):c.2794_2795delTT (p.Leu932Argfs) rs778824093
NM_015272.4(RPGRIP1L):c.2939del (p.Ile980Thrfs) rs1182447072
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015272.4(RPGRIP1L):c.972del (p.Cys325Alafs) rs757594906
NM_015662.2(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015681.3(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.4(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_017651.4(AHI1):c.1355delT (p.Phe452Serfs) rs1554208431
NM_017651.4(AHI1):c.1497_1498delTT (p.Tyr499Terfs) rs905262279
NM_017651.4(AHI1):c.836delA (p.Asp279Valfs) rs1554214237
NM_017777.3(MKS1):c.1115_1117delCCT (p.Ser372del) rs754279998
NM_017777.3(MKS1):c.1208C>T (p.Ser403Leu) rs773684291
NM_017777.3(MKS1):c.1387C>G (p.Arg463Gly)
NM_017777.3(MKS1):c.1408-34_1408-6del29 rs386834043
NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs) rs386834044
NM_017777.3(MKS1):c.1528dupC (p.Arg510Profs) rs863225204
NM_017777.3(MKS1):c.1589-2A>T rs863225207
NM_017777.3(MKS1):c.233T>G (p.Ile78Ser) rs786204222
NM_017777.3(MKS1):c.262-179_262-37del rs1555600644
NM_017777.3(MKS1):c.381delC (p.Tyr128Thrfs) rs863225206
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.55G>T (p.Asp19Tyr) rs863225205
NM_017777.3(MKS1):c.645-2A>T
NM_017777.3(MKS1):c.829G>T (p.Glu277Ter) rs1555599412
NM_017777.3(MKS1):c.950G>A (p.Gly317Glu) rs863225208
NM_019892.4(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.5(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.5(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.5(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.5(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.5(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.5(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.5(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.5(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.5(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.5(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.5(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.5(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.5(INPP5E):c.1760delT (p.Val587Glyfs) rs775518991
NM_019892.5(INPP5E):c.1844T>G (p.Leu615Ter)
NM_019892.5(INPP5E):c.1897_1898delCA (p.Gln633Glufs) rs863225199
NM_019892.5(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_024809.4(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.4(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.4(TCTN2):c.1626delT (p.Asp543Ilefs) rs863225220
NM_024809.4(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.4(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024809.4(TCTN2):c.367dup (p.Leu123Profs)
NM_024809.4(TCTN2):c.524dup (p.Leu175Phefs) rs760034947
NM_024809.4(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.4(TCTN2):c.652_659dup (p.Ala221Serfs) rs915737037
NM_024809.4(TCTN2):c.71delG (p.Asp26Thrfs) rs863225222
NM_024809.4(TCTN2):c.76dupG (p.Asp26Glyfs) rs863225222
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1474A>T (p.Lys492Ter) rs1278679056
NM_025114.3(CEP290):c.1512_1515delAGAG (p.Arg504Serfs) rs886043303
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1936C>T (p.Gln646Ter) rs780225183
NM_025114.3(CEP290):c.1984C>T (p.Gln662Ter) rs386834152
NM_025114.3(CEP290):c.2052+1_2052+2delGT rs747835249
NM_025114.3(CEP290):c.2112delA (p.Val705Leufs) rs863225183
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3104-2A>G rs773386777
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3205_3206delGAinsTG (p.Glu1069Ter) rs1555212150
NM_025114.3(CEP290):c.384_387delTAGA (p.Asp128Glufs) rs386834157
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs)
NM_025114.3(CEP290):c.4966G>T (p.Glu1656Ter) rs62638179
NM_025114.3(CEP290):c.4966_4967delGA (p.Glu1656Asnfs) rs756302731
NM_025114.3(CEP290):c.508A>T (p.Lys170Ter)
NM_025114.3(CEP290):c.5212G>T (p.Glu1738Ter) rs1555205328
NM_025114.3(CEP290):c.5434_5435delGA (p.Glu1812Lysfs) rs757609119
NM_025114.3(CEP290):c.5493delA (p.Ala1832Profs) rs386834158
NM_025114.3(CEP290):c.5512dup (p.Arg1838Lysfs)
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_030578.3(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.3(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.3(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_133496.4(SLC30A7):c.490_491delCAinsAG (p.His164Ser) rs1057519442
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.1413-1G>C rs386834185
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_153704.5(TMEM67):c.2314_2322+4delinsGG rs1064792983
NM_153704.5(TMEM67):c.579_580delAG (p.Gly195Ilefs) rs386834202
NM_153704.5(TMEM67):c.622A>T (p.Arg208Ter) rs137853108
NM_182924.3(MICALL2):c.851C>G (p.Pro284Arg) rs556808514

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