ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome

Included ClinVar conditions (58):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 522
Download table as spreadsheet
HGVS dbSNP
2q13 deletion
CC2D2A, 1-BP DEL, 3289G
CC2D2A, IVS19DS, G-C, +1
CEP290, 1-BP DEL, 4656A
CEP41, 3-BP DEL, IVS1DS, 97GAG
NC_000001.10:g.(?_3731946)_(3768991_?)del
NC_000002.11:g.(?_202483623)_(202512548_?)del
NC_000004.11:g.(?_15480347)_(15482451_?)del
NC_000006.11:g.(?_135751020)_(135754394_?)del
NC_000014.8:g.(?_58910652)_(58917484_?)del
NC_000016.9:g.(?_75573872)_(75579413_?)del
NC_000023.10:g.(?_13753171)_(13762658_?)del
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.275-2A>G
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.3(TMEM237):c.677+1G>A
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001044385.3(TMEM237):c.901C>T (p.Arg301Ter)
NM_001044385.3(TMEM237):c.943+1G>T rs748510210
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609
NM_001077418.3(TMEM231):c.139+47C>A
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769
NM_001077418.3(TMEM231):c.664+4A>G rs760426025
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1263_1264insGGCATGTTTTGGCAGCGA (p.Ser422_Arg423insGlyMetPheTrpGlnArg) rs762998472
NM_001080522.2(CC2D2A):c.1267C>T (p.Arg423Ter) rs757208121
NM_001080522.2(CC2D2A):c.1503_1505del (p.Lys501_Asp502delinsAsn) rs863225177
NM_001080522.2(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161
NM_001080522.2(CC2D2A):c.1676T>C (p.Leu559Pro) rs754221308
NM_001080522.2(CC2D2A):c.2624C>A (p.Ser875Ter) rs200904521
NM_001080522.2(CC2D2A):c.2625+1G>A
NM_001080522.2(CC2D2A):c.2671G>A (p.Glu891Lys) rs863225178
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.2999A>T (p.Glu1000Val) rs773881370
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3134T>C (p.Val1045Ala) rs863225173
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3288G>C (p.Gln1096His) rs863225169
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709
NM_001080522.2(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001080522.2(CC2D2A):c.3452T>C (p.Val1151Ala) rs863225170
NM_001080522.2(CC2D2A):c.3596T>C (p.Ile1199Thr) rs760918829
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3744_3747dup (p.Pro1250fs) rs863225171
NM_001080522.2(CC2D2A):c.3772-1G>T rs863225172
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3850C>T (p.Arg1284Cys) rs779823379
NM_001080522.2(CC2D2A):c.3892_3893del (p.Val1298fs) rs763735590
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759
NM_001080522.2(CC2D2A):c.3988C>T (p.Arg1330Ter) rs758036385
NM_001080522.2(CC2D2A):c.3989G>A (p.Arg1330Gln) rs763486732
NM_001080522.2(CC2D2A):c.4019_4020AC[1] (p.Thr1341fs)
NM_001080522.2(CC2D2A):c.4084dup (p.Ala1362fs)
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4226T>C (p.Ile1409Thr) rs863225176
NM_001080522.2(CC2D2A):c.4289T>C (p.Val1430Ala) rs863225168
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4491A>C (p.Gln1497His) rs863225179
NM_001080522.2(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052
NM_001080522.2(CC2D2A):c.4600T>G (p.Leu1534Val) rs778858648
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4741A>G (p.Thr1581Ala) rs863225174
NM_001080522.2(CC2D2A):c.4842_4843CT[1] (p.Ser1615fs) rs863225175
NM_001080522.2(CC2D2A):c.650del (p.Gly217fs)
NM_001080522.2(CC2D2A):c.964del (p.Val322fs)
NM_001082538.3(TCTN1):c.221-2A>G rs367543065
NM_001082538.3(TCTN1):c.342-2A>G rs730882221
NM_001082538.3(TCTN1):c.843+1del rs797046039
NM_001082538.3(TCTN1):c.898C>T (p.Arg300Ter) rs751962801
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.1152-2A>G rs753085250
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.1355del (p.Phe452fs) rs1554208431
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003
NM_001134831.2(AHI1):c.1497_1498del (p.Tyr499_Tyr500delinsTer) rs905262279
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.1677dup (p.Pro560fs) rs1554350503
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641
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.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.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.2492+1G>A
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.662C>G (p.Ser221Ter) rs863225138
NM_001134831.2(AHI1):c.736A>T (p.Lys246Ter) rs863225142
NM_001134831.2(AHI1):c.836del (p.Asp279fs) rs1554214237
NM_001134831.2(AHI1):c.910dup (p.Thr304fs) rs753874898
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050
NM_001142301.1(TMEM67):c.-155C>T rs267607118
NM_001142301.1(TMEM67):c.-62+661C>T rs762543032
NM_001142301.1(TMEM67):c.-62+662C>G rs772437766
NM_001142301.1(TMEM67):c.-62+717C>A rs751309268
NM_001142301.1(TMEM67):c.1078C>T (p.Arg360Cys) rs752362727
NM_001142301.1(TMEM67):c.1108C>T (p.Arg370Ter) rs116647652
NM_001142301.1(TMEM67):c.1130dup (p.Pro378fs)
NM_001142301.1(TMEM67):c.1170-1G>C rs386834185
NM_001142301.1(TMEM67):c.1210C>T (p.Pro404Ser) rs863225228
NM_001142301.1(TMEM67):c.1295A>G (p.Tyr432Cys) rs137853107
NM_001142301.1(TMEM67):c.12C>G (p.Ser4=) rs863225226
NM_001142301.1(TMEM67):c.1391G>A (p.Gly464Glu) rs267607114
NM_001142301.1(TMEM67):c.1431+3A>G rs863225224
NM_001142301.1(TMEM67):c.1526T>C (p.Phe509Ser) rs267607115
NM_001142301.1(TMEM67):c.1600T>C (p.Cys534Arg) rs201893408
NM_001142301.1(TMEM67):c.1668C>A (p.Phe556Leu) rs863225225
NM_001142301.1(TMEM67):c.1718-2A>C rs758948621
NM_001142301.1(TMEM67):c.2047C>T (p.Arg683Ter) rs751517725
NM_001142301.1(TMEM67):c.2071_2079+4delinsGG rs1064792983
NM_001142301.1(TMEM67):c.2072_2079+4delinsG rs1554557920
NM_001142301.1(TMEM67):c.2125C>A (p.His709Asn) rs863225230
NM_001142301.1(TMEM67):c.2196+5G>C
NM_001142301.1(TMEM67):c.2218G>A (p.Gly740Ser) rs267607116
NM_001142301.1(TMEM67):c.2218G>C (p.Gly740Arg) rs267607116
NM_001142301.1(TMEM67):c.2255T>C (p.Ile752Thr) rs267607119
NM_001142301.1(TMEM67):c.2279A>C (p.Gln760Pro) rs863225234
NM_001142301.1(TMEM67):c.2313+1G>T rs786200867
NM_001142301.1(TMEM67):c.2558G>A (p.Gly853Glu) rs863225236
NM_001142301.1(TMEM67):c.2582T>G (p.Phe861Cys) rs863225233
NM_001142301.1(TMEM67):c.272G>A (p.Arg91Gln) rs750950408
NM_001142301.1(TMEM67):c.336_337del (p.Gly114fs) rs386834202
NM_001142301.1(TMEM67):c.379A>T (p.Arg127Ter) rs137853108
NM_001142301.1(TMEM67):c.408+2T>G rs199821258
NM_001142301.1(TMEM67):c.432G>A (p.Trp144Ter) rs386834205
NM_001142301.1(TMEM67):c.482A>G (p.Asn161Ser) rs775883520
NM_001142301.1(TMEM67):c.487A>G (p.Thr163Ala) rs863225229
NM_001142301.1(TMEM67):c.512T>C (p.Met171Thr) rs202149403
NM_001142301.1(TMEM67):c.526A>G (p.Met176Val) rs863225227
NM_001142301.1(TMEM67):c.735+3A>G rs775256658
NM_001142301.1(TMEM67):c.803T>C (p.Leu268Ser) rs386834180
NM_001142301.1(TMEM67):c.830C>T (p.Pro277Leu) rs863225232
NM_001142301.1(TMEM67):c.838G>T (p.Glu280Ter) rs863225237
NM_001142301.1(TMEM67):c.872C>A (p.Thr291Lys) rs863225235
NM_001142301.1(TMEM67):c.883C>G (p.Gln295Glu) rs863225231
NM_001165927.1(MKS1):c.1085_1087del (p.Ser362del) rs754279998
NM_001165927.1(MKS1):c.1178C>T (p.Ser393Leu) rs773684291
NM_001165927.1(MKS1):c.1231C>T (p.Pro411Ser) rs863225210
NM_001165927.1(MKS1):c.1357C>G (p.Arg453Gly)
NM_001165927.1(MKS1):c.1378-1dup rs762668200
NM_001165927.1(MKS1):c.1378-34_1378-6del rs386834043
NM_001165927.1(MKS1):c.1420_1423dup (p.Thr475fs) rs386834044
NM_001165927.1(MKS1):c.1461-2A>G rs886038203
NM_001165927.1(MKS1):c.1498dup (p.Arg500fs) rs863225204
NM_001165927.1(MKS1):c.1558+1G>T rs886038204
NM_001165927.1(MKS1):c.1559-2A>T rs863225207
NM_001165927.1(MKS1):c.203T>G (p.Ile68Ser) rs786204222
NM_001165927.1(MKS1):c.232-179_232-37del rs1555600644
NM_001165927.1(MKS1):c.351del (p.Tyr118fs) rs863225206
NM_001165927.1(MKS1):c.387G>A (p.Glu129=) rs386834048
NM_001165927.1(MKS1):c.50+286G>T rs863225205
NM_001165927.1(MKS1):c.615-2A>T
NM_001165927.1(MKS1):c.737_738insC (p.Glu246fs) rs863225209
NM_001165927.1(MKS1):c.799G>T (p.Glu267Ter) rs1555599412
NM_001165927.1(MKS1):c.920G>A (p.Gly307Glu) rs863225208
NM_001173990.3(TMEM216):c.217C>T (p.Arg73Cys) rs779526456
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001173990.3(TMEM216):c.398T>G (p.Leu133Ter) rs755459875
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys) rs863225430
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
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_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_001291339.1(CSPP1):c.1398_1401AGAA[2] (p.Lys469fs) rs761382780
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[1] (p.Glu472fs) rs863225191
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[3] (p.Glu474fs) rs863225191
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) rs869312856
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) rs863225203
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) rs1566827747
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) rs1410766981
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) rs745949846
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) rs201097695
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) rs1203751352
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) rs1057516038
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) rs780520735
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_002601.4(PDE6D):c.140-1G>A rs587777156
NM_003611.3(OFD1):c.1313C>G (p.Ser438Ter) rs1569141500
NM_003611.3(OFD1):c.149A>G (p.His50Arg) rs863225213
NM_003611.3(OFD1):c.2126_2129del (p.Glu709fs) rs312262890
NM_003611.3(OFD1):c.260A>G (p.Tyr87Cys) rs312262818
NM_003611.3(OFD1):c.2668C>T (p.Arg890Ter) rs863225212
NM_003611.3(OFD1):c.2725C>T (p.Arg909Ter) rs1060500123
NM_003611.3(OFD1):c.2746dup (p.Tyr916fs) rs1569163423
NM_003611.3(OFD1):c.2767del (p.Glu923fs) rs312262894
NM_003611.3(OFD1):c.277G>T (p.Val93Phe) rs863225211
NM_003611.3(OFD1):c.2784_2788TAAAA[1] (p.Ile930fs) rs797044945
NM_003611.3(OFD1):c.2797G>T (p.Glu933Ter) rs1569164733
NM_003611.3(OFD1):c.2815G>T (p.Glu939Ter) rs1569164829
NM_003611.3(OFD1):c.2844_2850del (p.Lys948fs) rs312262895
NM_003611.3(OFD1):c.400_403del (p.Glu134fs) rs312262830
NM_003611.3(OFD1):c.560dup (p.Tyr187Ter) rs1555902640
NM_003611.3(OFD1):c.689_706del (p.Ile230_Lys235del) rs398122866
NM_003611.3(OFD1):c.710del (p.Lys237fs) rs312262845
NM_003611.3(OFD1):c.748G>T (p.Glu250Ter) rs1555902866
NM_003611.3(OFD1):c.915_916del (p.Arg306fs) rs1569128307
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_006346.4(PIBF1):c.1453C>T (p.Gln485Ter) rs539010725
NM_006346.4(PIBF1):c.1508A>G (p.Tyr503Cys) rs144610914
NM_006346.4(PIBF1):c.1910A>C (p.Asp637Ala) rs987735817
NM_006346.4(PIBF1):c.1918A>T (p.Ile640Phe) rs911707459
NM_014704.4(CEP104):c.1082_1091del (p.Pro361fs) rs776094913
NM_014704.4(CEP104):c.1328_1329insT (p.Tyr444fs) rs869025277
NM_014704.4(CEP104):c.2572-2A>G rs869025278
NM_014704.4(CEP104):c.496C>T (p.Arg166Ter) rs374574638
NM_014704.4(CEP104):c.735+2T>C rs869025276
NM_014704.4(CEP104):c.759T>G (p.Tyr253Ter) rs372048855
NM_014804.3(KIAA0753):c.1271del (p.Pro424fs) rs1555531363
NM_014804.3(KIAA0753):c.943C>T (p.Gln315Ter) rs762771340
NM_014804.3(KIAA0753):c.970C>T (p.Arg324Ter) rs746068882
NM_015202.4(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015202.4(KIAA0556):c.4420del (p.Met1474fs) rs1555497891
NM_015272.5(RPGRIP1L):c.1072_1073dup (p.Leu358fs) rs1060501006
NM_015272.5(RPGRIP1L):c.1120del (p.His374fs) rs878855006
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.1329dup (p.Arg444fs) rs749987648
NM_015272.5(RPGRIP1L):c.1489G>T (p.Glu497Ter) rs756821449
NM_015272.5(RPGRIP1L):c.1709dup (p.Asp571fs) rs778149316
NM_015272.5(RPGRIP1L):c.1721del (p.Tyr574fs) rs863225216
NM_015272.5(RPGRIP1L):c.1843A>C (p.Thr615Pro) rs121918198
NM_015272.5(RPGRIP1L):c.1873G>T (p.Gly625Ter)
NM_015272.5(RPGRIP1L):c.1945C>T (p.Arg649Ter)
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015272.5(RPGRIP1L):c.2050C>T (p.Gln684Ter) rs121918204
NM_015272.5(RPGRIP1L):c.2083G>C (p.Ala695Pro) rs121918200
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter) rs751128300
NM_015272.5(RPGRIP1L):c.2269del (p.Thr757fs) rs387906243
NM_015272.5(RPGRIP1L):c.2305-1G>A rs863225215
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs) rs778824093
NM_015272.5(RPGRIP1L):c.2939del (p.Ile980fs) rs1182447072
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter) rs778533826
NM_015272.5(RPGRIP1L):c.3701+1G>T rs863225219
NM_015272.5(RPGRIP1L):c.583A>T (p.Lys195Ter) rs1277577195
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015272.5(RPGRIP1L):c.697A>T (p.Lys233Ter) rs121918197
NM_015272.5(RPGRIP1L):c.757C>T (p.Gln253Ter) rs121918199
NM_015272.5(RPGRIP1L):c.946C>T (p.Gln316Ter)
NM_015272.5(RPGRIP1L):c.972del (p.Cys325fs) rs757594906
NM_015272.5(RPGRIP1L):c.986_987del (p.Lys329fs)
NM_015631.6(TCTN3):c.1423_1429del (p.Arg475fs)
NM_015631.6(TCTN3):c.3G>A (p.Met1Ile) rs745688122
NM_015631.6(TCTN3):c.940G>A (p.Gly314Arg) rs793888508
NM_015662.3(IFT172):c.4630C>T (p.Arg1544Cys) rs587777079
NM_015681.5(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_015681.5(B9D1):c.341+2T>C rs143149764
NM_015681.5(B9D1):c.466C>T (p.Arg156Trp) rs369488112
NM_015681.5(B9D1):c.467G>A (p.Arg156Gln) rs886038205
NM_015681.5(B9D1):c.517_519GTG[1] (p.Val174del) rs886038206
NM_015681.5(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_016169.3(SUFU):c.1217T>C (p.Ile406Thr) rs1554854758
NM_016169.3(SUFU):c.527A>G (p.His176Arg) rs1554852272
NM_016464.5(TMEM138):c.128+5G>A
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_018718.3(CEP41):c.33+2T>G
NM_018718.3(CEP41):c.423-2A>C
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter)
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
NM_019892.6(INPP5E):c.1162G>T (p.Val388Leu) rs863225201
NM_019892.6(INPP5E):c.1249T>C (p.Ser417Pro) rs863225202
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129
NM_019892.6(INPP5E):c.1468G>T (p.Asp490Tyr) rs757222534
NM_019892.6(INPP5E):c.1543C>T (p.Arg515Trp) rs13297509
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1688G>A (p.Arg563His) rs121918128
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1897_1898del (p.Gln633fs) rs863225199
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_023073.3(CPLANE1):c.1270C>T (p.Arg424Ter) rs755097302
NM_023073.3(CPLANE1):c.1784T>G (p.Leu595Ter) rs530569572
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_023073.3(CPLANE1):c.1877del (p.Ser626fs) rs1327245073
NM_023073.3(CPLANE1):c.2275C>T (p.Gln759Ter) rs863225158
NM_023073.3(CPLANE1):c.2353C>T (p.Arg785Ter) rs863225163
NM_023073.3(CPLANE1):c.2377C>T (p.Gln793Ter) rs776886962
NM_023073.3(CPLANE1):c.2422_2423del (p.Leu808fs) rs1242532564
NM_023073.3(CPLANE1):c.2556dup (p.Ala853fs) rs1561655920
NM_023073.3(CPLANE1):c.2611C>T (p.Arg871Cys) rs760906097
NM_023073.3(CPLANE1):c.2624C>T (p.Ser875Phe) rs794727154
NM_023073.3(CPLANE1):c.2709G>A (p.Trp903Ter) rs863225164
NM_023073.3(CPLANE1):c.2831G>A (p.Arg944His) rs863225165
NM_023073.3(CPLANE1):c.2923C>T (p.Gln975Ter) rs863225166
NM_023073.3(CPLANE1):c.2999G>T (p.Trp1000Leu) rs773362418
NM_023073.3(CPLANE1):c.3007G>T (p.Glu1003Ter) rs863225162
NM_023073.3(CPLANE1):c.3130_3131insA (p.Arg1044fs) rs863225161
NM_023073.3(CPLANE1):c.3150-1G>T rs606231258
NM_023073.3(CPLANE1):c.3290-2A>G rs606231260
NM_023073.3(CPLANE1):c.3380C>T (p.Ser1127Leu) rs375009168
NM_023073.3(CPLANE1):c.3405_3406CT[1] (p.Ser1136fs) rs1228082731
NM_023073.3(CPLANE1):c.3407del (p.Ser1136fs) rs1561584225
NM_023073.3(CPLANE1):c.3577C>T (p.Arg1193Cys) rs149170427
NM_023073.3(CPLANE1):c.3599C>T (p.Ala1200Val) rs141153181
NM_023073.3(CPLANE1):c.3632_3633AT[2] (p.Leu1213fs) rs863225157
NM_023073.3(CPLANE1):c.3859G>C (p.Asp1287His) rs606231261
NM_023073.3(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061
NM_023073.3(CPLANE1):c.424G>A (p.Glu142Lys) rs756856188
NM_023073.3(CPLANE1):c.4314del (p.Glu1439fs) rs1554084360
NM_023073.3(CPLANE1):c.4804C>T (p.Arg1602Ter) rs367543063
NM_023073.3(CPLANE1):c.4890dup (p.Ser1631fs) rs1554083251
NM_023073.3(CPLANE1):c.493del (p.Ile165fs) rs606231259
NM_023073.3(CPLANE1):c.510del (p.Leu171fs) rs779680371
NM_023073.3(CPLANE1):c.510dup (p.Leu171fs) rs779680371
NM_023073.3(CPLANE1):c.5733T>G (p.Tyr1911Ter) rs770770257
NM_023073.3(CPLANE1):c.6267_6268TG[1] (p.Val2090fs) rs768675259
NM_023073.3(CPLANE1):c.6407del (p.Pro2136fs) rs367543064
NM_023073.3(CPLANE1):c.6700C>T (p.Gln2234Ter) rs1381740657
NM_023073.3(CPLANE1):c.709C>T (p.Gln237Ter)
NM_023073.3(CPLANE1):c.7190del (p.Pro2397fs) rs863225156
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023073.3(CPLANE1):c.7778G>A (p.Trp2593Ter) rs863225159
NM_023073.3(CPLANE1):c.7817T>A (p.Leu2606Ter) rs749523755
NM_023073.3(CPLANE1):c.7936_7937del (p.Pro2646fs) rs1554068790
NM_023073.3(CPLANE1):c.7957+288G>A rs111294855
NM_023073.3(CPLANE1):c.7978C>T (p.Arg2660Ter) rs147416429
NM_023073.3(CPLANE1):c.7988_7989del (p.Gly2663fs) rs730882217
NM_023073.3(CPLANE1):c.8167C>T (p.Gln2723Ter) rs863225152
NM_023073.3(CPLANE1):c.817A>C (p.Asn273His) rs863225167
NM_023073.3(CPLANE1):c.8263_8264insG (p.Thr2755fs) rs1554064102
NM_023073.3(CPLANE1):c.8263del (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8263dup (p.Thr2755fs) rs775263897
NM_023073.3(CPLANE1):c.8471-1G>C rs1561376123
NM_023073.3(CPLANE1):c.8608G>T (p.Glu2870Ter) rs863225155
NM_023073.3(CPLANE1):c.8710C>T (p.Arg2904Ter) rs141507441
NM_023073.3(CPLANE1):c.8716G>T (p.Glu2906Ter) rs863225153
NM_023073.3(CPLANE1):c.8725del (p.Ala2909fs) rs770758833
NM_023073.3(CPLANE1):c.8785A>T (p.Arg2929Ter) rs1345413118
NM_023073.3(CPLANE1):c.8834del (p.Lys2945fs) rs1554050342
NM_023073.3(CPLANE1):c.8855+1G>A rs863225154
NM_023073.3(CPLANE1):c.8855+1G>T rs863225154
NM_023073.3(CPLANE1):c.9058C>T (p.Arg3020Ter) rs374144275
NM_023073.3(CPLANE1):c.907_908del (p.Lys303fs) rs1187142382
NM_023073.3(CPLANE1):c.968C>T (p.Thr323Met) rs373704405
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024790.6(CSPP1):c.167_168del (p.Lys56fs) rs766020802
NM_024790.6(CSPP1):c.1682+1G>T rs863225193
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) rs771203308
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2512dup (p.Glu838fs) rs1554604482
NM_024790.6(CSPP1):c.2525del (p.His842fs) rs1563720581
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) rs537456518
NM_024790.6(CSPP1):c.2814-9_2953+11del rs1554614893
NM_024790.6(CSPP1):c.2815A>T (p.Lys939Ter) rs1380418532
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.3205+1G>A rs773954226
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.457del (p.Arg153fs) rs863225192
NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) rs587777146
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
NM_024790.6(CSPP1):c.950+1G>C rs863225194
NM_024809.5(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.5(TCTN2):c.1235-1G>A rs863225425
NM_024809.5(TCTN2):c.1291G>T (p.Glu431Ter) rs863225221
NM_024809.5(TCTN2):c.1626del (p.Asp543fs) rs863225220
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys) rs201010803
NM_024809.5(TCTN2):c.1873C>T (p.Gln625Ter) rs863225426
NM_024809.5(TCTN2):c.1877T>A (p.Leu626Ter) rs786204788
NM_024809.5(TCTN2):c.367dup (p.Leu123fs) rs748951253
NM_024809.5(TCTN2):c.524dup (p.Leu175fs) rs760034947
NM_024809.5(TCTN2):c.613G>T (p.Gly205Cys) rs201827132
NM_024809.5(TCTN2):c.652_659dup (p.Ala221fs) rs915737037
NM_024809.5(TCTN2):c.76del (p.Asp26fs) rs863225222
NM_024809.5(TCTN2):c.76dup (p.Asp26fs) rs863225222
NM_025114.3(CEP290):c.103-1G>T rs863225188
NM_025114.3(CEP290):c.1066-1G>A rs965522059
NM_025114.3(CEP290):c.1078C>T (p.Arg360Ter) rs776645403
NM_025114.3(CEP290):c.1219_1220delAT (p.Met407Glufs) rs386834148
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
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.1623+1G>A rs863225186
NM_025114.3(CEP290):c.164_167delCTCA (p.Thr55Serfs) rs758550675
NM_025114.3(CEP290):c.1666delA (p.Ile556Phefs) rs727503855
NM_025114.3(CEP290):c.1666dupA (p.Ile556Asnfs) 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.21G>T (p.Trp7Cys) rs62635288
NM_025114.3(CEP290):c.2251C>T (p.Arg751Ter)
NM_025114.3(CEP290):c.2317dup (p.Ser773Lysfs) rs1555218898
NM_025114.3(CEP290):c.2343T>C (p.Asn781=) rs748034744
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.3104-2A>G rs773386777
NM_025114.3(CEP290):c.3104-5T>G
NM_025114.3(CEP290):c.3175dupA (p.Ile1059Asnfs) rs62640570
NM_025114.3(CEP290):c.3176delT (p.Ile1059Lysfs) rs863225184
NM_025114.3(CEP290):c.3185delT (p.Leu1062Argfs) rs863225189
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.3904C>T (p.Gln1302Ter) rs587783016
NM_025114.3(CEP290):c.4159dup (p.Ser1387Lysfs) rs1555208870
NM_025114.3(CEP290):c.4276_4277delAA (p.Asn1426Terfs) rs863224523
NM_025114.3(CEP290):c.4384delG (p.Glu1462Argfs) rs863225182
NM_025114.3(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286
NM_025114.3(CEP290):c.4452_4455delAGAA (p.Lys1484Asnfs) rs780624853
NM_025114.3(CEP290):c.451C>T (p.Arg151Ter) rs757641323
NM_025114.3(CEP290):c.4522C>T (p.Arg1508Ter) rs749439750
NM_025114.3(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834
NM_025114.3(CEP290):c.4882C>T (p.Gln1628Ter) rs376493409
NM_025114.3(CEP290):c.4962_4963delAA (p.Glu1656Asnfs) rs764309755
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.5344C>T (p.Arg1782Ter) rs575767207
NM_025114.3(CEP290):c.5414del (p.Thr1807Glnfs)
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) rs1565822519
NM_025114.3(CEP290):c.5611_5614delCAAA (p.Gln1871Valfs) rs727503853
NM_025114.3(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025114.3(CEP290):c.5704G>T (p.Glu1902Ter) rs267606719
NM_025114.3(CEP290):c.5813_5817delCTTTA (p.Thr1938Asnfs) rs62638180
NM_025114.3(CEP290):c.5931_5935delACGAG (p.Arg1978Phefs) rs1555201796
NM_025114.3(CEP290):c.5932C>T (p.Arg1978Ter) rs371525247
NM_025114.3(CEP290):c.6072C>A (p.Tyr2024Ter) rs779262951
NM_025114.3(CEP290):c.6277delG (p.Val2093Serfs) rs771454167
NM_025114.3(CEP290):c.654T>G (p.Tyr218Ter) rs863225185
NM_025114.3(CEP290):c.6798G>A (p.Trp2266Ter) rs760540562
NM_025114.3(CEP290):c.6862del (p.Asn2290Ilefs)
NM_025114.3(CEP290):c.6869dupA (p.Asn2290Lysfs) rs587783017
NM_025114.3(CEP290):c.6939C>A (p.Tyr2313Ter) rs863225187
NM_025114.3(CEP290):c.828delA (p.Glu277Lysfs) rs1555225566
NM_025114.3:c.1072C>T
NM_025114.3:c.1645C>T
NM_025114.3:c.166C>T
NM_025114.3:c.322C>T
NM_025114.3:c.3802C>T
NM_025114.3:c.4028delA rs1213286417
NM_025114.3:c.4040G>A
NM_025114.3:c.4186C>T
NM_025114.3:c.5445_5448delAACT
NM_025114.3:c.5728_5731delATTA
NM_025114.3:c.7073_7077dupTAATC
NM_025139.5(ARMC9):c.1211_1334del (p.Arg405Alafs) rs1553611393
NM_025139.6(ARMC9):c.1027C>A (p.Arg343Ser) rs759799287
NM_025139.6(ARMC9):c.1027C>T (p.Arg343Cys) rs759799287
NM_025139.6(ARMC9):c.1336C>T (p.Arg446Cys) rs753432312
NM_025139.6(ARMC9):c.1474+1G>C rs1114167448
NM_025139.6(ARMC9):c.1474G>A (p.Gly492Arg) rs780265931
NM_025139.6(ARMC9):c.1559C>T (p.Pro520Leu) rs1114167449
NM_025139.6(ARMC9):c.205G>A (p.Gly69Arg) rs750247691
NM_025139.6(ARMC9):c.259C>T (p.Arg87Ter) rs372770167
NM_030578.4(B9D2):c.107T>C (p.Leu36Pro) rs757863670
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser) rs863225150
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser) rs750436680
NM_133496.5(SLC30A7):c.490_491delinsAG (p.His164Ser) rs1057519442
NM_153223.3(CEP120):c.1138_1139insA (p.Ser380fs) rs1554103267
NM_153223.3(CEP120):c.1646C>T (p.Ala549Val) rs775080726
NM_153223.3(CEP120):c.2134C>T (p.Leu712Phe) rs114280473
NM_153223.3(CEP120):c.2177T>C (p.Leu726Pro) rs1554102026
NM_153223.3(CEP120):c.581T>C (p.Val194Ala) rs1554104276
NM_182924.4(MICALL2):c.851C>G (p.Pro284Arg) rs556808514
NPHP1, DEL
PIBF1, EX6-9 DEL
RPGRIP1L, 1-BP DEL, 1721A
Single allele
TMEM67, PRO358LEU

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.