ClinVar Miner

List of variants reported as benign for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 257
Download table as spreadsheet
HGVS dbSNP
NM_000272.4(NPHP1):c.14G>T (p.Arg5Leu) rs190983114
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071
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.1519A>G (p.Lys507Glu) rs144439937
NM_001080522.2(CC2D2A):c.1830G>A (p.Pro610=) rs185072004
NM_001080522.2(CC2D2A):c.1956G>A (p.Pro652=) rs375131519
NM_001080522.2(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
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.2161C>T (p.Pro721Ser) rs199768782
NM_001080522.2(CC2D2A):c.2475C>T (p.Ile825=) rs113835820
NM_001080522.2(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537
NM_001080522.2(CC2D2A):c.3183-8T>C rs13121363
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747
NM_001080522.2(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496
NM_001080522.2(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976
NM_001080522.2(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455
NM_001082538.3(TCTN1):c.473-10T>A rs12307716
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=)
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927
NM_001134831.2(AHI1):c.*1051_*1054ATTT[1] rs144339517
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln)
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=)
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=) rs368942099
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669
NM_001134831.2(AHI1):c.2624-6A>G rs41288015
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929
NM_001134831.2(AHI1):c.2961+9del
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001134831.2(AHI1):c.3329-7A>G
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530
NM_001134831.2(AHI1):c.932-10A>G rs114319588
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741
NM_001134831.2(AHI1):c.990T>C (p.Asp330=)
NM_001142301.1(TMEM67):c.823-3C>T rs3097427
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001165927.1(MKS1):c.1406G>A (p.Arg469His) rs111315726
NM_001165927.1(MKS1):c.1468A>G (p.Met490Val) rs144635826
NM_001165927.1(MKS1):c.1641G>C (p.Leu547=) rs11548967
NM_001165927.1(MKS1):c.183C>G (p.Asp61Glu) rs142813109
NM_001165927.1(MKS1):c.231+7C>T rs200156751
NM_001165927.1(MKS1):c.828+9A>G rs3826300
NM_001165927.1(MKS1):c.984G>A (p.Leu328=) rs201998680
NM_001173990.3(TMEM216):c.-2G>T rs7107543
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001174150.2(ARL13B):c.486+22del
NM_001174150.2(ARL13B):c.486+22dup
NM_001378615.1(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959
NM_003611.3(OFD1):c.1129+8T>A
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580
NM_003611.3(OFD1):c.1654+8A>G rs200767363
NM_003611.3(OFD1):c.1654+9C>T rs200007045
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255
NM_003611.3(OFD1):c.476T>C (p.Met159Thr)
NM_003611.3(OFD1):c.567G>A (p.Gln189=)
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884
NM_003611.3(OFD1):c.936-2A>G rs199902986
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr)
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=)
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp)
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=)
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr)
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071
NM_015681.5(B9D1):c.181C>T (p.Arg61Trp) rs73980038
NM_015681.5(B9D1):c.237C>G (p.Pro79=) rs149051059
NM_015681.5(B9D1):c.516C>T (p.Asn172=)
NM_015681.5(B9D1):c.580T>C (p.Leu194=) rs7212549
NM_017651.4(AHI1):c.3368C>T rs117447608
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_019892.6(INPP5E):c.*328T>C rs35763810
NM_019892.6(INPP5E):c.*703A>G rs1128874
NM_019892.6(INPP5E):c.*816A>G rs8413
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG
NM_019892.6(INPP5E):c.1159+8C>T rs73566945
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078
NM_019892.6(INPP5E):c.1388-13C>T rs78828148
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1550-14C>T rs181576122
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.813-5C>G rs186462782
NM_019892.6(INPP5E):c.813-8C>T rs373176644
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378
NM_020785.2(CC2D2A):c.230-6C>T rs1861049
NM_020785.2(CC2D2A):c.262C>T (p.Arg88Ter) rs1861050
NM_024753.4(TTC21B):c.-145G>A rs111867313
NM_024753.5(TTC21B):c.2322+3A>G rs79037278
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867
NM_024809.5(TCTN2):c.1393+7C>T rs7298440
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu)
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556
NM_024809.5(TCTN2):c.83-4C>T rs73416299
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100
NM_024809.5(TCTN2):c.891+7G>A rs7313032
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131
NM_025114.4(CEP290):c.1522+6C>T rs148446546
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999
NM_025114.4(CEP290):c.1624-5T>C rs142742071
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly)
NM_025114.4(CEP290):c.2218-13dup
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-10A>T rs190383141
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=)
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671
NM_025114.4(CEP290):c.5227-9A>G
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr)
NM_025114.4(CEP290):c.6960+10G>A rs75011402
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433
NM_025114.4(CEP290):c.7392_7393AG[1] (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425
NM_030578.4(B9D2):c.183C>T (p.Ile61=)
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317
NM_030578.4(B9D2):c.88+6C>T rs112498529
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541
NM_153704.6(TMEM67):c.2440-6T>C
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208

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