ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome with ocular defect

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_001077418.3(TMEM231):c.139+47C>A rs200063331 0.00029
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842 0.00012
NM_001077418.3(TMEM231):c.373C>G (p.Pro125Ala) rs1442638461 0.00009
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_018718.3(CEP41):c.1000G>A (p.Gly334Arg) rs564625875 0.00006
NM_001077418.3(TMEM231):c.664+4A>G rs760426025 0.00005
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile) rs397514753 0.00005
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter) rs775449384 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147 0.00004
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198 0.00004
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197 0.00004
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) rs376555896 0.00003
NM_001077418.3(TMEM231):c.284del (p.Asp95fs) rs750897443 0.00003
NM_001077418.3(TMEM231):c.438+1G>A rs1415483600 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908 0.00003
NM_018718.3(CEP41):c.418C>T (p.Gln140Ter) rs781848162 0.00003
NM_001044385.3(TMEM237):c.553+1G>A rs80034299 0.00002
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001077418.3(TMEM231):c.124G>A (p.Ala42Thr) rs1197109885 0.00002
NM_001128178.3(NPHP1):c.1588C>T (p.Arg530Ter) rs547352656 0.00002
NM_001128178.3(NPHP1):c.871C>T (p.Arg291Ter) rs765263671 0.00002
NM_001134831.2(AHI1):c.2247dup (p.Leu750fs) rs1445681647 0.00002
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138 0.00002
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204 0.00002
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826 0.00002
NM_018718.3(CEP41):c.1037A>G (p.Gln346Arg) rs782371437 0.00002
NM_001044385.3(TMEM237):c.278T>A (p.Leu93Ter) rs1687223389 0.00001
NM_001044385.3(TMEM237):c.677+1G>A rs793888505 0.00001
NM_001077418.3(TMEM231):c.574C>T (p.Arg192Ter) rs543122080 0.00001
NM_001077418.3(TMEM231):c.582+1G>A rs752141701 0.00001
NM_001128178.3(NPHP1):c.1270-1G>A rs376492641 0.00001
NM_001128178.3(NPHP1):c.1716+1G>T rs1233478832 0.00001
NM_001134831.2(AHI1):c.1152-2A>G rs753085250 0.00001
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1626+1G>A rs863225137 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter) rs751734985 0.00001
NM_001134831.2(AHI1):c.1976A>T (p.Asp659Val) rs541041911 0.00001
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135 0.00001
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993 0.00001
NM_001134831.2(AHI1):c.313C>T (p.Gln105Ter) rs774628957 0.00001
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_017777.4(MKS1):c.370C>T (p.Arg124Ter) rs990955357 0.00001
2q13 deletion
GRCh37/hg19 2q13(chr2:110880893-110962659)
GRCh37/hg19 2q13(chr2:110880925-110962590)
NC_000002.11:g.(?_202466462)_(202508123_?)del
NC_000002.11:g.(?_202501451)_(202633608_?)del
NC_000002.11:g.(?_202508062)_(202508123_?)del
NC_000002.12:g.(?_201618900)_(201647825_?)del
NC_000002.12:g.110069919_110205214del
NC_000016.10:g.(?_75539974)_(75545515_?)del
NC_000016.9:g.(?_75490611)_(75576599_?)del
NC_000016.9:g.(?_75512539)_(75576601_?)del
NC_000016.9:g.(?_75573892)_(75575373_?)del
NC_000016.9:g.(?_75573892)_(75579413_?)del
NC_000016.9:g.(?_75573892)_(75690509_?)del
NC_000016.9:g.(?_75589682)_(75590169_?)del
NM_000272.5(NPHP1):c.(?_-45)_(*443_?)del
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.128dup (p.Asn43fs)
NM_001044385.3(TMEM237):c.175C>T (p.Arg59Ter) rs902145121
NM_001044385.3(TMEM237):c.275-2A>G rs1574582671
NM_001044385.3(TMEM237):c.314C>G (p.Ser105Ter) rs2105900861
NM_001044385.3(TMEM237):c.325C>T (p.Arg109Ter) rs565778005
NM_001044385.3(TMEM237):c.413_420del (p.Glu138fs)
NM_001044385.3(TMEM237):c.470_473dup (p.Thr159fs) rs1957813141
NM_001044385.3(TMEM237):c.605_606del (p.Ile202fs) rs756970007
NM_001044385.3(TMEM237):c.606_609dup (p.Val204fs) rs2105899220
NM_001044385.3(TMEM237):c.62del (p.Pro21fs) rs1574587553
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.694dup (p.Ser232fs)
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.869+1G>A rs730882231
NM_001044385.3(TMEM237):c.869+1del rs1311551510
NM_001044385.3(TMEM237):c.890C>G (p.Ser297Ter) rs768528861
NM_001077418.3(TMEM231):c.-37G>A
NM_001077418.3(TMEM231):c.139+1del rs2151711054
NM_001077418.3(TMEM231):c.139+39_139+40del
NM_001077418.3(TMEM231):c.140-3C>G rs776673877
NM_001077418.3(TMEM231):c.140-8dup
NM_001077418.3(TMEM231):c.140-9_140-8del
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter) rs2080804101
NM_001077418.3(TMEM231):c.33C>A (p.Val11=)
NM_001077418.3(TMEM231):c.354dup (p.His119fs) rs2151703115
NM_001077418.3(TMEM231):c.3_4insAGCTCTATGAGCTCATG (p.Ala2fs)
NM_001077418.3(TMEM231):c.438+1G>C rs1415483600
NM_001077418.3(TMEM231):c.4G>A (p.Ala2Thr) rs903354438
NM_001077418.3(TMEM231):c.535C>T (p.Gln179Ter) rs2151702587
NM_001077418.3(TMEM231):c.544C>T (p.Gln182Ter)
NM_001077418.3(TMEM231):c.583-1_583delinsAG rs2151700036
NM_001077418.3(TMEM231):c.583-1_593delinsAGTATCTGTGAC
NM_001128178.3(NPHP1):c.1551del (p.Ile517fs) rs1017750255
NM_001128178.3(NPHP1):c.555del (p.Lys185fs) rs766524637
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs) rs766524637
NM_001128178.3(NPHP1):c.625-2A>G
NM_001128178.3(NPHP1):c.882C>A (p.Tyr294Ter)
NM_001134831.2(AHI1):c.1044C>A (p.Tyr348Ter) rs2128081591
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1326del (p.Val443fs) rs1788834778
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1330_1331insGGATA (p.Ile444fs) rs1788833484
NM_001134831.2(AHI1):c.1369_1373del (p.Asp456_Glu457insTer) rs2128071123
NM_001134831.2(AHI1):c.1420del (p.Ile474fs) rs1369440486
NM_001134831.2(AHI1):c.1516C>T (p.Arg506Ter) rs371637724
NM_001134831.2(AHI1):c.1614del (p.Val539fs) rs863225141
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1761del (p.Lys586_Trp587insTer) rs1787347907
NM_001134831.2(AHI1):c.1799_1802del (p.Lys600fs) rs1786504555
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
NM_001134831.2(AHI1):c.1889del (p.Ser630fs) rs1786487832
NM_001134831.2(AHI1):c.1897_1898dup (p.Tyr634fs) rs863225132
NM_001134831.2(AHI1):c.1917T>A (p.Tyr639Ter) rs764412921
NM_001134831.2(AHI1):c.2012C>T (p.Thr671Ile) rs772989270
NM_001134831.2(AHI1):c.2023G>A (p.Asp675Asn) rs863225145
NM_001134831.2(AHI1):c.2036+1G>T rs776093293
NM_001134831.2(AHI1):c.2037-1G>C rs1784918128
NM_001134831.2(AHI1):c.2098_2099dup (p.Tyr701fs) rs863225136
NM_001134831.2(AHI1):c.2156A>G (p.Asp719Gly) rs863225134
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2266+1G>A
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2283del (p.Gly762fs)
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter) rs863225146
NM_001134831.2(AHI1):c.2361G>T (p.Trp787Cys) rs863225146
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter) rs863225131
NM_001134831.2(AHI1):c.2598_2604del (p.Ile866fs) rs587783014
NM_001134831.2(AHI1):c.2623+1G>T rs751823180
NM_001134831.2(AHI1):c.2671C>T (p.Arg891Ter) rs1355690902
NM_001134831.2(AHI1):c.3059dup (p.Asn1020fs) rs1463748841
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_015272.5(RPGRIP1L):c.1132del (p.Trp378fs) rs863225217
NM_015272.5(RPGRIP1L):c.118C>T (p.Gln40Ter) rs1555616593
NM_015272.5(RPGRIP1L):c.1243+1G>A rs863225218
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1273+1G>C rs933577333
NM_017777.4(MKS1):c.1408-34_1408-6del rs386834043
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) rs386834044
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.34-2A>G rs1797714974
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.423-2A>G rs781815473
NM_018718.3(CEP41):c.477del (p.Glu160fs)
NM_018718.3(CEP41):c.7del (p.Leu3fs) rs1798139951
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018718.3(CEP41):c.880del (p.Leu294fs)
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119

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