ClinVar Miner

List of variants studied for Joubert syndrome with ocular defect

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 171
Download table as spreadsheet
HGVS dbSNP
CEP41, 3-BP DEL, IVS1DS, 97GAG
NC_000002.11:g.(?_202483623)_(202512548_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)dup
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.3(TMEM237):c.169G>A (p.Ala57Thr)
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006
NM_001044385.3(TMEM237):c.395+7A>G rs78297522
NM_001044385.3(TMEM237):c.418C>T (p.Gln140Ter) rs972221242
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.554-2_554-1insT rs1085307098
NM_001044385.3(TMEM237):c.634T>C (p.Trp212Arg) rs200467447
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.80-2A>G rs1445957469
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.10A>G (p.Arg4Gly)
NM_001077416.2(TMEM231):c.12G>A (p.Arg4=) rs115739052
NM_001077416.2(TMEM231):c.335C>A (p.Pro112Gln)
NM_001077416.2(TMEM231):c.653T>A (p.Val218Asp)
NM_001077416.2(TMEM231):c.73A>G (p.Met25Val)
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077416.2(TMEM231):c.886T>C (p.Phe296Leu) rs746025189
NM_001077416.2(TMEM231):c.913C>G (p.Pro305Ala)
NM_001077416.2(TMEM231):c.957A>G (p.Val319=) rs772364535
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297
NM_001077418.3(TMEM231):c.139+47C>A
NM_001077418.3(TMEM231):c.140-28C>G rs375353411
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225
NM_001077418.3(TMEM231):c.470C>T (p.Ala157Val) rs201036290
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741
NM_001077418.3(TMEM231):c.582+17T>A rs2738801
NM_001077418.3(TMEM231):c.582+3A>G rs114290622
NM_001077418.3(TMEM231):c.582+8C>G rs144252983
NM_001077418.3(TMEM231):c.583-10C>T rs774265542
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001077418.3(TMEM231):c.710G>C (p.Arg237Thr)
NM_001077418.3(TMEM231):c.791A>C (p.Glu264Ala) rs199605221
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762
NM_001077418.3(TMEM231):c.927_928inv (p.Asp309_Leu310delinsGluVal)
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.108del (p.Lys36fs) rs1562294047
NM_001134831.2(AHI1):c.1115A>G (p.Asp372Gly) rs863225133
NM_001134831.2(AHI1):c.1152-2A>G rs753085250
NM_001134831.2(AHI1):c.1205del (p.Pro402fs) rs794729195
NM_001134831.2(AHI1):c.1260G>A (p.Trp420Ter) rs863225143
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter) rs777668842
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003
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+1G>A rs863225137
NM_001134831.2(AHI1):c.1626+4_1626+5insTTAC rs863225148
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
NM_001134831.2(AHI1):c.1780-14C>T rs2757645
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter) rs797045223
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.1976A>T (p.Asp659Val) rs541041911
NM_001134831.2(AHI1):c.1997A>T (p.Asp666Val) rs863225147
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.2087A>G (p.His696Arg) rs797045224
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.2168G>A (p.Arg723Gln) rs121434351
NM_001134831.2(AHI1):c.2172del (p.Trp725fs) rs755407014
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013
NM_001134831.2(AHI1):c.2187_2196del (p.Met729fs) rs863225140
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) rs372659908
NM_001134831.2(AHI1):c.2267G>T (p.Gly756Val) rs372012542
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2297G>A (p.Gly766Glu) rs863225139
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
NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) rs863225135
NM_001134831.2(AHI1):c.2705T>A (p.Val902Asp) rs368788993
NM_001134831.2(AHI1):c.2739_2741TCT[1] (p.Leu915del)
NM_001134831.2(AHI1):c.2988del (p.Val997fs) rs755246809
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3263_3264del (p.Trp1088fs) rs387906269
NM_001134831.2(AHI1):c.3426+13G>A rs6914831
NM_001134831.2(AHI1):c.3503A>G (p.Glu1168Gly) rs199578341
NM_001134831.2(AHI1):c.662C>G (p.Ser221Ter) rs863225138
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.96dup (p.Leu33fs) rs747322175
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050
NM_001165927.1(MKS1):c.1033A>G (p.Thr345Ala) rs745809472
NM_001165927.1(MKS1):c.1046_1048CCA[1] (p.Thr350del) rs1555598065
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1136-2A>G rs1488635637
NM_001165927.1(MKS1):c.1145C>T (p.Pro382Leu) rs763534380
NM_001165927.1(MKS1):c.1238C>T (p.Thr413Ile) rs760184188
NM_001165927.1(MKS1):c.1258_1284del (p.Thr420_Glu428del) rs1555597302
NM_001165927.1(MKS1):c.1301_1315del (p.Glu434_Phe439delinsVal) rs1555597266
NM_001165927.1(MKS1):c.1352A>G (p.Tyr451Cys) rs730882120
NM_001165927.1(MKS1):c.1364del (p.Pro455fs) rs865870355
NM_001165927.1(MKS1):c.1377+3_1377+5delinsAAT rs1555597194
NM_001165927.1(MKS1):c.1378-2A>G rs1555596943
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1404_1432del (p.Arg469fs) rs1555596845
NM_001165927.1(MKS1):c.1446T>G (p.Cys482Trp) rs137853105
NM_001165927.1(MKS1):c.1461-2A>G rs886038203
NM_001165927.1(MKS1):c.1467del (p.Phe489fs) rs780161503
NM_001165927.1(MKS1):c.1501_1504del (p.Ser501fs) rs1555596710
NM_001165927.1(MKS1):c.1513C>T (p.Arg505Cys) rs775558298
NM_001165927.1(MKS1):c.154_160del (p.Thr52fs) rs386834046
NM_001165927.1(MKS1):c.1558+12C>G rs762501967
NM_001165927.1(MKS1):c.1558+1G>T rs886038204
NM_001165927.1(MKS1):c.1570C>A (p.Arg524=) rs772719574
NM_001165927.1(MKS1):c.1570C>T (p.Arg524Ter) rs772719574
NM_001165927.1(MKS1):c.1579C>T (p.Arg527Cys) rs35464956
NM_001165927.1(MKS1):c.1584del (p.Met529fs) rs1555596555
NM_001165927.1(MKS1):c.1591G>T (p.Glu531Ter) rs1555596538
NM_001165927.1(MKS1):c.160+2T>C rs375170572
NM_001165927.1(MKS1):c.184G>A (p.Glu62Lys) rs753620277
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.337dup (p.Arg113fs) rs775043799
NM_001165927.1(MKS1):c.338G>A (p.Arg113Gln) rs202112856
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.463C>T (p.Arg155Cys) rs779953982
NM_001165927.1(MKS1):c.478C>T (p.Arg160Ter) rs756853299
NM_001165927.1(MKS1):c.485+1G>A rs201933838
NM_001165927.1(MKS1):c.485+2T>G rs1376664664
NM_001165927.1(MKS1):c.50+198_50+220del rs1244307754
NM_001165927.1(MKS1):c.50+232A>G rs1555601787
NM_001165927.1(MKS1):c.50+282_50+286dup rs386834051
NM_001165927.1(MKS1):c.50+313T>C rs386834052
NM_001165927.1(MKS1):c.50+325C>G rs761061379
NM_001165927.1(MKS1):c.514G>A (p.Val172Ile) rs200185068
NM_001165927.1(MKS1):c.741G>A (p.Lys247=) rs886038632
NM_001165927.1(MKS1):c.793_795GAG[5] (p.Glu268dup) rs780100856
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.80A>G (p.Asn27Ser) rs587779734
NM_001165927.1(MKS1):c.814C>T (p.Arg272Ter) rs797045706
NM_001165927.1(MKS1):c.827A>G (p.Asp276Gly) rs151023718
NM_001165927.1(MKS1):c.828+1G>A rs756102768
NM_001165927.1(MKS1):c.88C>T (p.His30Tyr) rs199832333
NM_001165927.1(MKS1):c.994+1G>A rs199874059
NM_001165927.1(MKS1):c.995-2A>C rs794727070
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017651.4(AHI1):c.[2561G>T];[3368C>T]
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.1065C>G (p.Ser355Arg) rs116313397
NM_018718.3(CEP41):c.107T>C (p.Met36Thr) rs368178632
NM_018718.3(CEP41):c.114A>G (p.Lys38=) rs1554421037
NM_018718.3(CEP41):c.208-5A>G rs11765434
NM_018718.3(CEP41):c.244G>T (p.Glu82Ter) rs1562984087
NM_018718.3(CEP41):c.33+2T>G
NM_018718.3(CEP41):c.383A>G (p.Asn128Ser)
NM_018718.3(CEP41):c.423-2A>C
NM_018718.3(CEP41):c.473A>G (p.Lys158Arg) rs1554417299
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
NM_018718.3(CEP41):c.976C>T (p.Arg326Ter) rs782286004
NM_152388.4(TMEM237):c.1042dup (p.Gln348fs) rs751952525
NM_152388.4(TMEM237):c.653+1G>A
Single allele

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.