ClinVar Miner

List of variants reported as benign for Joubert syndrome by Invitae

Included ClinVar conditions (57):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
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HGVS dbSNP
NM_001044385.2(TMEM237):c.1065C>G (p.Leu355=) rs149240122
NM_001044385.2(TMEM237):c.395+7A>G rs78297522
NM_001044385.2(TMEM237):c.9T>G (p.Thr3=) rs6736435
NM_001077416.2(TMEM231):c.1050G>A (p.Val350=) rs149888762
NM_001077416.2(TMEM231):c.271C>G (p.Arg91Gly) rs375353411
NM_001077416.2(TMEM231):c.336G>C (p.Pro112=) rs78196225
NM_001077416.2(TMEM231):c.657G>A (p.Pro219=) rs201636741
NM_001077416.2(TMEM231):c.741+3A>G rs114290622
NM_001077416.2(TMEM231):c.741+8C>G rs144252983
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001080522.2(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
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.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.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.2(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001173990.2(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173991.2(TMEM216):c.440G>C (p.Arg147Thr) rs10897158
NM_001244189.1(KIAA0586):c.1133A>T (p.Glu378Val) rs144456198
NM_001244189.1(KIAA0586):c.1215A>G (p.Ser405=) rs148006211
NM_001244189.1(KIAA0586):c.136G>T (p.Val46Phe) rs186659284
NM_001244189.1(KIAA0586):c.1389A>G (p.Gly463=) rs10135645
NM_001244189.1(KIAA0586):c.1598C>T (p.Thr533Ile) rs61745119
NM_001244189.1(KIAA0586):c.1702G>A (p.Ala568Thr) rs568910724
NM_001244189.1(KIAA0586):c.1729T>A (p.Leu577Ile) rs61742715
NM_001244189.1(KIAA0586):c.2219-3T>C rs17094553
NM_001244189.1(KIAA0586):c.238T>A (p.Ser80Thr) rs147119902
NM_001244189.1(KIAA0586):c.2894C>T (p.Pro965Leu) rs139493302
NM_001244189.1(KIAA0586):c.3263G>A (p.Gly1088Asp) rs77860620
NM_001244189.1(KIAA0586):c.3324_3325delGCinsAG (p.Pro1109Ala) rs386777947
NM_001244189.1(KIAA0586):c.3878T>C (p.Leu1293Ser) rs190271845
NM_001244189.1(KIAA0586):c.4079A>G (p.Asp1360Gly) rs3783697
NM_001244189.1(KIAA0586):c.4620T>C (p.Ile1540=) rs11611
NM_001244189.1(KIAA0586):c.4804G>A (p.Val1602Ile) rs45568037
NM_001244189.1(KIAA0586):c.581T>C (p.Met194Thr) rs61735931
NM_003611.2(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.2(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.2(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.2(OFD1):c.1654+8A>G rs200767363
NM_003611.2(OFD1):c.1654+9C>T rs200007045
NM_003611.2(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.2(OFD1):c.1730A>G (p.Asn577Ser) rs200465596
NM_003611.2(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.2(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.2(OFD1):c.1930C>T (p.Arg644Cys) rs185831378
NM_003611.2(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.2(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.2(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.2(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.2(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.2(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.2(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.2(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.2(OFD1):c.54A>G (p.Glu18=) rs147114577
NM_003611.2(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.2(OFD1):c.936-2A>G rs199902986
NM_014704.3(CEP104):c.1308A>T (p.Gly436=) rs148455387
NM_014704.3(CEP104):c.1363C>T (p.Leu455=) rs115015364
NM_014704.3(CEP104):c.1386A>G (p.Leu462=) rs76234817
NM_014704.3(CEP104):c.177G>A (p.Leu59=) rs79859848
NM_014704.3(CEP104):c.1884G>T (p.Thr628=) rs12144567
NM_014704.3(CEP104):c.1914A>G (p.Arg638=) rs2275829
NM_014704.3(CEP104):c.2569G>A (p.Glu857Lys) rs111626991
NM_014704.3(CEP104):c.552A>T (p.Glu184Asp) rs61745578
NM_014704.3(CEP104):c.681G>A (p.Lys227=) rs61746709
NM_015272.4(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.4(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.4(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.4(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.4(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.4(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.4(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.4(RPGRIP1L):c.3295-8delT rs113083177
NM_015272.4(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.4(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.4(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.4(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015631.5(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015631.5(TCTN3):c.630T>C (p.Ala210=) rs41299157
NM_015631.5(TCTN3):c.925G>T (p.Ala309Ser) rs55859130
NM_015681.4(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.4(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.4(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_016464.4(TMEM138):c.261G>A (p.Val87=) rs35245221
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.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.3579T>C (p.Thr1193=) rs115338154
NM_017651.4(AHI1):c.517G>A (p.Ala173Thr) rs146416468
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.989A>G (p.Asp330Gly) rs200201741
NM_017777.3(MKS1):c.1388G>A (p.Arg463Gln) rs201619500
NM_017777.3(MKS1):c.1436G>A (p.Arg479His) rs111315726
NM_017777.3(MKS1):c.213C>G (p.Asp71Glu) rs142813109
NM_018718.2(CEP41):c.208-5A>G rs11765434
NM_018718.2(CEP41):c.718T>G (p.Cys240Gly) rs113941736
NM_019892.5(INPP5E):c.1159+7_1159+8insTGGCTGGAGGGGTGGGCG rs71269007
NM_019892.5(INPP5E):c.1159+8C>T rs73566945
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.1470C>T (p.Asp490=) rs375301475
NM_019892.5(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.5(INPP5E):c.1791G>C (p.Pro597=) rs10870182
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.813-5C>G rs186462782
NM_019892.5(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_023073.3(CPLANE1):c.1125A>G (p.Pro375=) rs61745362
NM_023073.3(CPLANE1):c.1173T>G (p.Ala391=) rs61733482
NM_023073.3(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995
NM_023073.3(CPLANE1):c.1737G>A (p.Ala579=) rs13356183
NM_023073.3(CPLANE1):c.1809T>C (p.Thr603=) rs115435816
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.4190-10_4190-9delTT rs111508546
NM_023073.3(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950
NM_023073.3(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971
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.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.6051T>C (p.Ala2017=) rs61746147
NM_023073.3(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652
NM_023073.3(CPLANE1):c.6957A>G (p.Gln2319=) rs143147192
NM_023073.3(CPLANE1):c.7234-7C>G rs141575785
NM_023073.3(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518
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.8502-3A>T rs58401892
NM_023073.3(CPLANE1):c.8607A>G (p.Thr2869=) rs16903514
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_024790.6(CSPP1):c.1962T>C (p.Thr654=) rs114177619
NM_024790.6(CSPP1):c.2107A>G (p.Ser703Gly) rs201316149
NM_024790.6(CSPP1):c.2377-8_2377-4delTTTTA rs528357182
NM_024790.6(CSPP1):c.30A>G (p.Val10=) rs181470846
NM_024790.6(CSPP1):c.3123A>G (p.Lys1041=) rs76567936
NM_024790.6(CSPP1):c.3298T>C (p.Trp1100Arg) rs1808140
NM_024790.6(CSPP1):c.3478C>T (p.Pro1160Ser) rs200161440
NM_024809.4(TCTN2):c.-2G>A rs141768405
NM_024809.4(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.4(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.4(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.4(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.4(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.4(TCTN2):c.615C>T (p.Gly205=) rs147485641
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.720C>G (p.Pro240=) rs149430216
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.898C>T (p.Leu300=) rs77804131
NM_025114.3(CEP290):c.1522+6C>T rs148446546
NM_025114.3(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.3(CEP290):c.1624-5T>C rs142742071
NM_025114.3(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.3(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.3(CEP290):c.2268G>A (p.Ser756=) rs2468255
NM_025114.3(CEP290):c.2484-8_2484-4dupGTTTT rs745522483
NM_025114.3(CEP290):c.251-10A>T rs190383141
NM_025114.3(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.3(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.3(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.3(CEP290):c.3574-9delT rs10717563
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.384T>C (p.Asp128=) rs76267039
NM_025114.3(CEP290):c.3955T>C (p.Leu1319=) rs182851622
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.4237G>C (p.Asp1413His) rs183655276
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.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.3(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.3(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_030578.3(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_153704.5(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.5(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.5(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.5(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.5(TMEM67):c.781G>A (p.Asp261Asn) rs35793208
NM_182896.2(ARL13B):c.105C>T (p.Thr35=) rs146396078
NM_182896.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412

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