ClinVar Miner

Variants with conflicting interpretations studied for Joubert syndrome

Coded as:
Minimum review status of the submission for Joubert syndrome: Y axis collection method of the submission for Joubert syndrome:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
385 330 4 143 123 1 13 270

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Joubert syndrome pathogenic likely pathogenic uncertain significance likely benign benign risk factor
pathogenic 2 6 9 1 1 1
likely pathogenic 5 0 1 0 0 0
uncertain significance 1 1 0 100 51 0
likely benign 1 2 8 2 101 1
benign 0 1 4 44 0 0

Condition to condition summary #

Total conditions: 34
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
not specified 0 24 0 126 104 0 1 228
not provided 0 82 2 14 15 0 2 32
Orofaciodigital syndrome 6; Joubert syndrome 17 0 4 0 20 10 0 0 30
Joubert syndrome; Meckel-Gruber syndrome 0 12 0 10 18 0 2 29
Joubert syndrome 963 2 0 13 5 0 2 20
Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 0 3 0 6 13 0 0 19
Jeune thoracic dystrophy; Nephronophthisis 0 4 0 8 5 0 0 13
Joubert syndrome 17 0 3 0 2 7 0 1 10
Nephronophthisis 0 116 0 3 5 0 1 8
Cutis laxa, recessive 0 3 0 4 1 0 0 5
Meckel-Gruber syndrome 0 314 0 1 1 0 3 5
Bardet-Biedl syndrome 13; Meckel syndrome type 1; Joubert syndrome 28 0 1 0 2 0 0 1 3
Joubert syndrome 14 0 0 1 2 0 0 0 3
Joubert syndrome 15 0 0 0 0 2 0 0 2
Joubert syndrome 3 0 6 0 2 0 0 1 2
Meckel syndrome type 1 0 1 0 2 0 0 0 2
Meckel syndrome type 8 0 1 0 2 0 0 0 2
B9D1-Related Disorders 0 0 0 0 0 0 1 1
JOUBERT SYNDROME 33 0 0 0 1 0 0 0 1
Jeune thoracic dystrophy 0 78 0 0 0 0 1 1
Joubert syndrome 1 0 1 0 1 0 0 0 1
Joubert syndrome 16 0 0 0 1 0 0 0 1
Joubert syndrome 2 0 0 1 0 0 0 0 1
Joubert syndrome 24 0 1 0 0 0 0 1 1
Joubert syndrome 26 0 0 0 1 0 0 0 1
Joubert syndrome 2; Meckel syndrome type 2 0 1 0 1 0 0 0 1
Joubert syndrome 5 0 0 0 1 0 0 0 1
Joubert syndrome 6 0 0 0 1 0 0 0 1
Joubert syndrome 8 0 2 0 1 0 0 0 1
MKS1-Related Disorders 0 0 0 1 0 0 0 1
Meckel syndrome type 4 0 0 0 1 0 0 0 1
Meckel syndrome type 6 0 1 0 0 0 0 1 1
Retinitis pigmentosa in ciliopathies, modifier of 0 0 0 0 0 1 0 1
Talipes equinovarus; Skeletal dysplasia; Micrognathia; Hemivertebrae; Preaxial foot polydactyly; Respiratory failure; Short femur; Vertebral segmentation defect; Pseudoarthrosis; Chronic lung disease; Interstitial pulmonary abnormality; Coat hanger sign of ribs; Vertebral hypoplasia; Absent epiphyses; Cleft palate; Patent ductus arteriosus 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 270
Download table as spreadsheet
HGVS dbSNP
NM_000272.3(NPHP1):c.1121C>T (p.Thr374Ile) rs140469160
NM_000272.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626
NM_000272.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_000272.3(NPHP1):c.1637G>A (p.Arg546Lys) rs149887461
NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000272.3(NPHP1):c.654G>A (p.Glu218=) rs11675767
NM_000272.3(NPHP1):c.810C>T (p.Cys270=) rs73954628
NM_000272.3(NPHP1):c.830G>A (p.Arg277Gln) rs143174377
NM_001044385.2(TMEM237):c.-12G>A rs113186360
NM_001044385.2(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
NM_001044385.2(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521
NM_001044385.2(TMEM237):c.395+7A>G rs78297522
NM_001044385.2(TMEM237):c.52C>T (p.Arg18Ter) rs199469707
NM_001044385.2(TMEM237):c.75-13T>C rs116829037
NM_001044385.2(TMEM237):c.80-11T>C rs76296365
NM_001044385.2(TMEM237):c.870-13_870-12delTT rs555284377
NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.-32G>A rs183968785
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.124-6C>T rs1861049
NM_001080522.2(CC2D2A):c.156C>T (p.Ser52=) rs1861050
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.355T>C (p.Leu119=) rs202150325
NM_001080522.2(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4438-9C>A rs117667651
NM_001080522.2(CC2D2A):c.4459C>T (p.Arg1487Cys) rs186486235
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001082538.2(TCTN1):c.-46G>C rs538932401
NM_001082538.2(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.2(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.2(TCTN1):c.220+12G>C rs76843552
NM_001082538.2(TCTN1):c.298G>A (p.Val100Met) rs145478892
NM_001082538.2(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.2(TCTN1):c.473-10T>A rs12307716
NM_001082538.2(TCTN1):c.473-6_473-4delAAA rs10577377
NM_001082538.2(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001082538.2(TCTN1):c.960C>T (p.Cys320=) rs145970332
NM_001134831.1(AHI1):c.2168G>A (p.Arg723Gln) rs121434351
NM_001173990.2(TMEM216):c.-24C>T rs59493015
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.2(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.2(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.2(TMEM216):c.420T>C (p.Ala140=) rs749351351
NM_001173991.2(TMEM216):c.*21A>G rs111371929
NM_001173991.2(TMEM216):c.-24C>G rs59493015
NM_001173991.2(TMEM216):c.-2G>T rs7107543
NM_001173991.2(TMEM216):c.211G>T (p.Val71Leu) rs57932685
NM_001173991.2(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001286577.1(C2CD3):c.5267G>A (p.Gly1756Glu) rs150291837
NM_006346.3(PIBF1):c.1214G>A (p.Arg405Gln) rs17089782
NM_012463.3(ATP6V0A2):c.-14C>T rs1139320
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814
NM_015202.3(KIAA0556):c.2674C>T (p.Gln892Ter) rs864309712
NM_015272.4(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.4(RPGRIP1L):c.1960G>A (p.Glu654Lys) rs141979202
NM_015272.4(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.4(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647
NM_015272.4(RPGRIP1L):c.2658G>A (p.Ser886=) rs775153934
NM_015272.4(RPGRIP1L):c.2682A>G (p.Ser894=) rs141608712
NM_015272.4(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.4(RPGRIP1L):c.2959-15T>C rs11863101
NM_015272.4(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.4(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926
NM_015272.4(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.4(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.4(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.4(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015681.3(B9D1):c.95A>G (p.Tyr32Cys) rs771170000
NM_015681.4(B9D1):c.285C>A (p.Phe95Leu) rs373478202
NM_016464.4(TMEM138):c.-24G>A rs116455434
NM_016464.4(TMEM138):c.261G>A (p.Val87=) rs35245221
NM_017651.4(AHI1):c.*28G>C rs9494209
NM_017651.4(AHI1):c.1152-11T>G rs113317693
NM_017651.4(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_017651.4(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_017651.4(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_017651.4(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_017651.4(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_017651.4(AHI1):c.2624-6A>G rs41288015
NM_017651.4(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_017651.4(AHI1):c.2961+7_2961+21delTTATTTTATGCAGTTinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_017651.4(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_017651.4(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_017651.4(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_017651.4(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_017651.4(AHI1):c.3418C>T (p.Pro1140Ser) rs201148693
NM_017651.4(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_017651.4(AHI1):c.653A>G (p.Tyr218Cys) rs183936286
NM_017651.4(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_017651.4(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_017651.4(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_017651.4(AHI1):c.986G>T (p.Arg329Leu) rs139944375
NM_017651.4(AHI1):c.989A>G (p.Asp330Gly) rs200201741
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.1408-34_1408-6del29 rs386834043
NM_017777.3(MKS1):c.1450_1453dupGGCA (p.Thr485Argfs) rs386834044
NM_017777.3(MKS1):c.417G>A (p.Glu139=) rs386834048
NM_017777.3(MKS1):c.493C>T (p.Arg165Cys) rs779953982
NM_018718.2(CEP41):c.1009T>C (p.Ser337Pro) rs147444165
NM_018718.2(CEP41):c.208-5A>G rs11765434
NM_018718.2(CEP41):c.616C>G (p.Pro206Ala) rs143303575
NM_018718.2(CEP41):c.786G>A (p.Pro262=) rs782460743
NM_019892.4(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.4(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.5(INPP5E):c.-31G>C rs554931078
NM_019892.5(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG rs71269007
NM_019892.5(INPP5E):c.1159+8C>T rs73566945
NM_019892.5(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.5(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.5(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.5(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.5(INPP5E):c.1380C>T (p.Ser460=) rs145543466
NM_019892.5(INPP5E):c.1388-13C>T rs78828148
NM_019892.5(INPP5E):c.1506G>A (p.Pro502=) rs74880446
NM_019892.5(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.5(INPP5E):c.1550-14C>T rs181576122
NM_019892.5(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.5(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.5(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.5(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.5(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.5(INPP5E):c.21T>C (p.Asn7=) rs571588033
NM_019892.5(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.5(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.5(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.5(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.5(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.5(INPP5E):c.944C>T (p.Pro315Leu) rs754637179
NM_019892.5(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.5(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_023073.3(CPLANE1):c.*18G>T rs200332492
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1411C>G (p.Leu471Val) rs139940282
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1755A>G (p.Ser585=) rs186970259
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
NM_023073.3(CPLANE1):c.1883G>A (p.Arg628Lys) rs74975451
NM_023073.3(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632
NM_023073.3(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758
NM_023073.3(CPLANE1):c.378G>A (p.Gly126=) rs73750958
NM_023073.3(CPLANE1):c.3795T>A (p.Val1265=) rs74478954
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_023073.3(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028
NM_023073.3(CPLANE1):c.4190-10_4190-9delTT rs111508546
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4403C>G (p.Ser1468Cys) rs150556877
NM_023073.3(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199
NM_023073.3(CPLANE1):c.4954C>T (p.Leu1652=) rs141109938
NM_023073.3(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186
NM_023073.3(CPLANE1):c.5329G>A (p.Val1777Ile) rs142777778
NM_023073.3(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949
NM_023073.3(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774
NM_023073.3(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666
NM_023073.3(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173
NM_023073.3(CPLANE1):c.5738-6C>T rs148634159
NM_023073.3(CPLANE1):c.5900+7G>T rs78315844
NM_023073.3(CPLANE1):c.5901-3T>C rs10805625
NM_023073.3(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326
NM_023073.3(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.662T>C (p.Val221Ala) rs370118778
NM_023073.3(CPLANE1):c.6905C>T (p.Thr2302Met) rs34737149
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.765A>C (p.Gly255=) rs117995360
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
NM_023073.3(CPLANE1):c.7866C>T (p.Ser2622=) rs141486731
NM_023073.3(CPLANE1):c.8124C>T (p.Asp2708=) rs114126795
NM_023073.3(CPLANE1):c.8182C>A (p.Pro2728Thr) rs77014998
NM_023073.3(CPLANE1):c.8212-15G>A rs74881219
NM_023073.3(CPLANE1):c.8471-3delT rs34646696
NM_023073.3(CPLANE1):c.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
NM_023073.3(CPLANE1):c.8796+4A>C rs199810663
NM_023073.3(CPLANE1):c.8931A>G (p.Ser2977=) rs141014620
NM_023073.3(CPLANE1):c.8976C>G (p.Pro2992=) rs16903511
NM_023073.3(CPLANE1):c.9184G>A (p.Gly3062Arg) rs7702892
NM_023073.3(CPLANE1):c.94G>A (p.Val32Ile) rs73750959
NM_024753.4(TTC21B):c.1387C>T (p.Pro463Ser) rs16851307
NM_024753.4(TTC21B):c.1417C>T (p.Leu473Phe) rs2163649
NM_024753.4(TTC21B):c.1571C>G (p.Ser524Cys) rs145436538
NM_024753.4(TTC21B):c.1650A>G (p.Glu550=) rs145926679
NM_024753.4(TTC21B):c.1695C>T (p.Tyr565=) rs6750044
NM_024753.4(TTC21B):c.1846C>T (p.Arg616Cys) rs139441507
NM_024753.4(TTC21B):c.1870A>G (p.Ile624Val) rs77106136
NM_024753.4(TTC21B):c.2175T>C (p.Phe725=) rs10176588
NM_024753.4(TTC21B):c.2211+13A>G rs73969727
NM_024753.4(TTC21B):c.2334C>T (p.Tyr778=) rs79656636
NM_024753.4(TTC21B):c.2385G>C (p.Leu795=) rs80225158
NM_024753.4(TTC21B):c.2569-5dupT rs144600502
NM_024753.4(TTC21B):c.3519T>C (p.Thr1173=) rs115504901
NM_024753.4(TTC21B):c.3519T>G (p.Thr1173=) rs115504901
NM_024753.4(TTC21B):c.601G>A (p.Val201Met) rs1432273
NM_024753.4(TTC21B):c.665A>T (p.Gln222Leu) rs80026831
NM_024753.4(TTC21B):c.724G>A (p.Asp242Asn) rs74447004
NM_024753.4(TTC21B):c.826A>G (p.Thr276Ala) rs7592429
NM_024753.4(TTC21B):c.838A>G (p.Met280Val) rs112868646
NM_024809.4(TCTN2):c.*155G>A rs12811354
NM_024809.4(TCTN2):c.*45G>A rs142969969
NM_024809.4(TCTN2):c.*468C>T rs7398298
NM_024809.4(TCTN2):c.1117G>A (p.Gly373Arg) rs187433682
NM_024809.4(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.4(TCTN2):c.1393+7C>T rs7298440
NM_024809.4(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.4(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.4(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.4(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.4(TCTN2):c.83-4C>T rs73416299
NM_024809.4(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.4(TCTN2):c.891+7G>A rs7313032
NM_025114.3(CEP290):c.-41C>T rs759820573
NM_025114.3(CEP290):c.1092T>G (p.Ile364Met) rs201988582
NM_025114.3(CEP290):c.1451delA (p.Lys484Argfs) rs386834149
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.3(CEP290):c.2616G>A (p.Ser872=) rs776360559
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.3(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.3(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.3(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.3(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.3(CEP290):c.4151G>A (p.Arg1384His) rs143152287
NM_025114.3(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.3(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.3(CEP290):c.503G>A (p.Arg168His) rs200063017
NM_025114.3(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.3(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.3(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.3(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.3(CEP290):c.5764A>C (p.Ile1922Leu) rs746949236
NM_025114.3(CEP290):c.6116A>G (p.Asp2039Gly) rs192259143
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_153704.5(TMEM67):c.-33delG rs145334032
NM_153704.5(TMEM67):c.1066-3C>T rs3097427
NM_153704.5(TMEM67):c.120T>C (p.Ser40=) rs767999682
NM_153704.5(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2448G>A (p.Leu816=) rs886038738
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.725A>G (p.Asn242Ser) rs775883520
NM_153704.5(TMEM67):c.869+9A>G rs372597584
NM_182896.2(ARL13B):c.-50C>A rs199505618
NM_182896.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211
NM_182896.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243

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