ClinVar Miner

List of variants studied for Joubert syndrome 8

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ClinVar version:
Total variants: 277
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HGVS dbSNP gnomAD frequency
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243 0.00089
NM_001174150.2(ARL13B):c.943G>A (p.Gly315Arg) rs143785315 0.00079
NM_001174150.2(ARL13B):c.689+19T>C rs376881421 0.00078
NM_001174150.2(ARL13B):c.59+8G>A rs183229189 0.00061
NM_001174150.2(ARL13B):c.1045A>G (p.Lys349Glu) rs139063474 0.00050
NM_001174150.2(ARL13B):c.130+7T>C rs200527262 0.00047
NM_001174150.2(ARL13B):c.690-5G>A rs373173586 0.00047
NM_001174150.2(ARL13B):c.1261A>G (p.Ser421Gly) rs112062713 0.00040
NM_001174150.2(ARL13B):c.891A>T (p.Gln297His) rs140215698 0.00040
NM_001174150.2(ARL13B):c.1217A>G (p.Tyr406Cys) rs149679906 0.00033
NM_001174150.2(ARL13B):c.106G>A (p.Ala36Thr) rs139780924 0.00031
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=) rs561410801 0.00020
NM_001174150.2(ARL13B):c.1253G>A (p.Arg418Gln) rs142510905 0.00020
NM_001174150.2(ARL13B):c.1136C>T (p.Pro379Leu) rs149587888 0.00016
NM_001174150.2(ARL13B):c.1070A>G (p.His357Arg) rs150821066 0.00014
NM_001174150.2(ARL13B):c.568A>G (p.Ile190Val) rs193219215 0.00011
NM_001174150.2(ARL13B):c.1090A>G (p.Ile364Val) rs200908149 0.00010
NM_001174150.2(ARL13B):c.830A>C (p.Asn277Thr) rs142635985 0.00009
NM_001174150.2(ARL13B):c.896A>C (p.Glu299Ala) rs144961534 0.00007
NM_001174150.2(ARL13B):c.1073G>A (p.Arg358Gln) rs369942016 0.00006
NM_001174150.2(ARL13B):c.270T>C (p.Tyr90=) rs753336861 0.00006
NM_001174150.2(ARL13B):c.30C>T (p.Gly10=) rs375770842 0.00006
NM_001174150.2(ARL13B):c.486+11T>G rs367759389 0.00006
NM_001174150.2(ARL13B):c.60A>G (p.Arg20=) rs765240700 0.00006
NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu) rs771933896 0.00004
NM_001174150.2(ARL13B):c.441A>G (p.Leu147=) rs148354827 0.00004
NM_001174150.2(ARL13B):c.502A>G (p.Ile168Val) rs748838191 0.00004
NM_001174150.2(ARL13B):c.506C>T (p.Ser169Leu) rs376359647 0.00004
NM_001174150.2(ARL13B):c.690-10C>T rs373752093 0.00004
NM_001174150.2(ARL13B):c.690-6C>T rs775646763 0.00004
NM_001174150.2(ARL13B):c.744G>A (p.Glu248=) rs760160787 0.00004
NM_001174150.2(ARL13B):c.781G>A (p.Ala261Thr) rs950077926 0.00004
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=) rs774691904 0.00003
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter) rs779260568 0.00003
NM_001174150.2(ARL13B):c.397G>T (p.Asp133Tyr) rs140290819 0.00003
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393 0.00003
NM_001174150.2(ARL13B):c.811C>G (p.Leu271Val) rs1232686117 0.00003
NM_001174150.2(ARL13B):c.912T>A (p.Val304=) rs1217967570 0.00003
NM_001174150.2(ARL13B):c.1211-20G>T rs1296477933 0.00002
NM_001174150.2(ARL13B):c.1276G>A (p.Val426Met) rs542576070 0.00002
NM_001174150.2(ARL13B):c.205A>G (p.Ile69Val) rs774341143 0.00002
NM_001174150.2(ARL13B):c.319A>G (p.Thr107Ala) rs757443869 0.00002
NM_001174150.2(ARL13B):c.501A>C (p.Ala167=) rs774807971 0.00002
NM_001174150.2(ARL13B):c.873T>A (p.His291Gln) rs143435132 0.00002
NM_001174150.2(ARL13B):c.981G>A (p.Gln327=) rs749088942 0.00002
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804 0.00001
NM_001174150.2(ARL13B):c.1024+10C>G rs568052715 0.00001
NM_001174150.2(ARL13B):c.1029T>C (p.Asn343=) rs746493443 0.00001
NM_001174150.2(ARL13B):c.1117A>T (p.Thr373Ser) rs747940414 0.00001
NM_001174150.2(ARL13B):c.1118C>T (p.Thr373Met) rs369850890 0.00001
NM_001174150.2(ARL13B):c.1119G>A (p.Thr373=) rs746618270 0.00001
NM_001174150.2(ARL13B):c.1133C>T (p.Pro378Leu) rs1385061611 0.00001
NM_001174150.2(ARL13B):c.1142-12C>A rs201429461 0.00001
NM_001174150.2(ARL13B):c.1156C>T (p.Pro386Ser) rs762309445 0.00001
NM_001174150.2(ARL13B):c.1159A>G (p.Lys387Glu) rs773535816 0.00001
NM_001174150.2(ARL13B):c.1210+11A>C rs373224518 0.00001
NM_001174150.2(ARL13B):c.1210+8A>G rs1397333712 0.00001
NM_001174150.2(ARL13B):c.169A>G (p.Lys57Glu) rs777838538 0.00001
NM_001174150.2(ARL13B):c.195T>G (p.Phe65Leu) rs776646616 0.00001
NM_001174150.2(ARL13B):c.202A>C (p.Thr68Pro) rs759625669 0.00001
NM_001174150.2(ARL13B):c.20G>A (p.Ser7Asn) rs1360370074 0.00001
NM_001174150.2(ARL13B):c.211G>A (p.Asp71Asn) rs2076089782 0.00001
NM_001174150.2(ARL13B):c.22T>G (p.Cys8Gly) rs1292813768 0.00001
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln) rs121912606 0.00001
NM_001174150.2(ARL13B):c.360A>G (p.Ile120Met) rs1258750655 0.00001
NM_001174150.2(ARL13B):c.380+19A>T rs1016476537 0.00001
NM_001174150.2(ARL13B):c.41G>A (p.Arg14Gln) rs1163274036 0.00001
NM_001174150.2(ARL13B):c.436T>G (p.Cys146Gly) rs202125140 0.00001
NM_001174150.2(ARL13B):c.479G>A (p.Cys160Tyr) rs757417843 0.00001
NM_001174150.2(ARL13B):c.486+8T>G rs750515411 0.00001
NM_001174150.2(ARL13B):c.487-9C>A rs1394028422 0.00001
NM_001174150.2(ARL13B):c.507G>A (p.Ser169=) rs199847439 0.00001
NM_001174150.2(ARL13B):c.551A>G (p.Tyr184Cys) rs773654634 0.00001
NM_001174150.2(ARL13B):c.554G>A (p.Trp185Ter) rs760756412 0.00001
NM_001174150.2(ARL13B):c.59+14A>G rs762514257 0.00001
NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys) rs555792435 0.00001
NM_001174150.2(ARL13B):c.614C>A (p.Thr205Lys) rs150449935 0.00001
NM_001174150.2(ARL13B):c.64G>A (p.Val22Met) rs752373152 0.00001
NM_001174150.2(ARL13B):c.671G>A (p.Arg224Gln) rs542323478 0.00001
NM_001174150.2(ARL13B):c.689+13A>T rs750183691 0.00001
NM_001174150.2(ARL13B):c.689+2T>G rs761785586 0.00001
NM_001174150.2(ARL13B):c.699T>C (p.Asn233=) rs760352687 0.00001
NM_001174150.2(ARL13B):c.715G>A (p.Glu239Lys) rs778540135 0.00001
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300 0.00001
NM_001174150.2(ARL13B):c.721G>A (p.Asp241Asn) rs757984271 0.00001
NM_001174150.2(ARL13B):c.772C>T (p.Gln258Ter) rs1362774896 0.00001
NM_001174150.2(ARL13B):c.775C>T (p.Pro259Ser) rs538624288 0.00001
NM_001174150.2(ARL13B):c.794T>C (p.Ile265Thr) rs144719706 0.00001
NM_001174150.2(ARL13B):c.798+9G>A rs757716671 0.00001
NM_001174150.2(ARL13B):c.822G>A (p.Glu274=) rs547842227 0.00001
NM_001174150.2(ARL13B):c.834A>T (p.Gln278His) rs772186970 0.00001
NM_001174150.2(ARL13B):c.841G>A (p.Glu281Lys) rs745765178 0.00001
NM_001174150.2(ARL13B):c.846A>G (p.Lys282=) rs769736361 0.00001
NM_001174150.2(ARL13B):c.857G>C (p.Gly286Ala) rs1378023901 0.00001
NM_001174150.2(ARL13B):c.906_908dup (p.Gly302_Gln303insHis) rs1278628108 0.00001
NM_001174150.2(ARL13B):c.926A>G (p.Gln309Arg) rs766797911 0.00001
NM_001174150.2(ARL13B):c.938A>C (p.Glu313Ala) rs1453508206 0.00001
NM_001174150.2(ARL13B):c.949G>A (p.Val317Ile) rs758650562 0.00001
NM_001174150.2(ARL13B):c.961A>G (p.Lys321Glu) rs769719854 0.00001
NC_000003.11:g.(?_93593089)_(93722772_?)dup
NC_000003.11:g.(?_93692478)_(93699346_?)dup
NC_000003.11:g.(?_93714775)_(93724716_?)del
NC_000003.11:g.(?_93768230)_(93772107_?)dup
NC_000003.11:g.(?_93772011)_(93845334_?)dup
NC_000003.12:g.(?_93874245)_(94015269_?)dup
NC_000003.12:g.(?_93973674)_(94126490_?)dup
NC_000003.12:g.(?_94035331)_(94061511_?)dup
NM_001174150.2(ARL13B):c.*1_*4delACAA
NM_001174150.2(ARL13B):c.1006C>A (p.Arg336=)
NM_001174150.2(ARL13B):c.1020A>T (p.Glu340Asp)
NM_001174150.2(ARL13B):c.1023A>G (p.Ser341=) rs908792896
NM_001174150.2(ARL13B):c.1024+10_1024+11del rs780446984
NM_001174150.2(ARL13B):c.1024+22_1024+26del rs1443308353
NM_001174150.2(ARL13B):c.1024+6_1024+9del
NM_001174150.2(ARL13B):c.1024+9T>A
NM_001174150.2(ARL13B):c.1025-20T>C
NM_001174150.2(ARL13B):c.1025-3T>A rs373375837
NM_001174150.2(ARL13B):c.1033A>G (p.Lys345Glu) rs2107191077
NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=) rs2107191221
NM_001174150.2(ARL13B):c.1058T>C (p.Met353Thr) rs1390167347
NM_001174150.2(ARL13B):c.1067A>G (p.Asn356Ser) rs2077033566
NM_001174150.2(ARL13B):c.1069C>T (p.His357Tyr) rs2077033637
NM_001174150.2(ARL13B):c.1071C>G (p.His357Gln)
NM_001174150.2(ARL13B):c.1089T>C (p.Asn363=) rs2107191521
NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)
NM_001174150.2(ARL13B):c.1094A>G (p.Asp365Gly) rs1466606984
NM_001174150.2(ARL13B):c.1125C>T (p.Pro375=)
NM_001174150.2(ARL13B):c.1132C>G (p.Pro378Ala)
NM_001174150.2(ARL13B):c.1134T>A (p.Pro378=) rs1401884380
NM_001174150.2(ARL13B):c.1137T>A (p.Pro379=) rs1325555759
NM_001174150.2(ARL13B):c.1141+1G>A
NM_001174150.2(ARL13B):c.1141+7A>G rs2107192117
NM_001174150.2(ARL13B):c.1142-12C>G
NM_001174150.2(ARL13B):c.1142-8_1142-3del rs748669767
NM_001174150.2(ARL13B):c.1144G>T (p.Gly382Cys)
NM_001174150.2(ARL13B):c.1164C>T (p.Val388=) rs1474936663
NM_001174150.2(ARL13B):c.1165A>G (p.Thr389Ala)
NM_001174150.2(ARL13B):c.1182T>A (p.Leu394=)
NM_001174150.2(ARL13B):c.1193G>T (p.Gly398Val) rs1483508428
NM_001174150.2(ARL13B):c.1209T>C (p.Asn403=) rs762926282
NM_001174150.2(ARL13B):c.1210+14A>G
NM_001174150.2(ARL13B):c.1210+16del rs2107198501
NM_001174150.2(ARL13B):c.1210+1G>T rs1057414428
NM_001174150.2(ARL13B):c.1210+7C>A rs1315475247
NM_001174150.2(ARL13B):c.1210+9A>T
NM_001174150.2(ARL13B):c.1211-10C>A rs202221552
NM_001174150.2(ARL13B):c.1211-10C>T rs202221552
NM_001174150.2(ARL13B):c.1211-11T>A
NM_001174150.2(ARL13B):c.1211-18T>C
NM_001174150.2(ARL13B):c.1211-1G>C rs767291160
NM_001174150.2(ARL13B):c.1211-5_1211-4del
NM_001174150.2(ARL13B):c.1223A>G (p.Lys408Arg) rs2107208074
NM_001174150.2(ARL13B):c.1232C>T (p.Pro411Leu) rs2107208132
NM_001174150.2(ARL13B):c.1239G>C (p.Leu413=) rs2107208220
NM_001174150.2(ARL13B):c.1248A>G (p.Pro416=) rs753337159
NM_001174150.2(ARL13B):c.1250A>C (p.Gln417Pro)
NM_001174150.2(ARL13B):c.1268C>T (p.Ala423Val)
NM_001174150.2(ARL13B):c.1270C>T (p.His424Tyr) rs886058932
NM_001174150.2(ARL13B):c.127G>C (p.Gly43Arg)
NM_001174150.2(ARL13B):c.1284A>C (p.Ser428=)
NM_001174150.2(ARL13B):c.12G>C (p.Leu4=) rs1575912966
NM_001174150.2(ARL13B):c.130+7T>G
NM_001174150.2(ARL13B):c.130+8G>A
NM_001174150.2(ARL13B):c.131-11A>G rs1320529150
NM_001174150.2(ARL13B):c.131-1G>T rs373604132
NM_001174150.2(ARL13B):c.131-9T>C
NM_001174150.2(ARL13B):c.154A>G (p.Thr52Ala) rs1431090403
NM_001174150.2(ARL13B):c.174_191dup (p.Gly63_Lys64insAsnAsnLeuArgGlnGly) rs2107435150
NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)
NM_001174150.2(ARL13B):c.190_192del (p.Lys64del) rs2107435357
NM_001174150.2(ARL13B):c.200T>G (p.Val67Gly)
NM_001174150.2(ARL13B):c.206T>A (p.Ile69Asn)
NM_001174150.2(ARL13B):c.214T>G (p.Leu72Val) rs2107435658
NM_001174150.2(ARL13B):c.221G>A (p.Gly74Asp) rs2076089885
NM_001174150.2(ARL13B):c.223G>A (p.Gly75Arg)
NM_001174150.2(ARL13B):c.233T>C (p.Ile78Thr) rs2076090139
NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg)
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.269A>G (p.Tyr90Cys)
NM_001174150.2(ARL13B):c.277A>G (p.Ile93Val)
NM_001174150.2(ARL13B):c.286G>T (p.Val96Leu)
NM_001174150.2(ARL13B):c.305A>T (p.Glu102Val) rs1013644884
NM_001174150.2(ARL13B):c.308G>T (p.Arg103Ile) rs1025041382
NM_001174150.2(ARL13B):c.362C>T (p.Ser121Leu)
NM_001174150.2(ARL13B):c.380+8A>T rs1367254699
NM_001174150.2(ARL13B):c.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.406G>A (p.Gly136Arg) rs2107111382
NM_001174150.2(ARL13B):c.415G>A (p.Gly139Arg)
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001174150.2(ARL13B):c.429C>T (p.Val143=) rs2107111571
NM_001174150.2(ARL13B):c.437G>A (p.Cys146Tyr) rs865931355
NM_001174150.2(ARL13B):c.440dup (p.Ser148fs) rs2107111639
NM_001174150.2(ARL13B):c.454T>C (p.Leu152=)
NM_001174150.2(ARL13B):c.466C>T (p.His156Tyr)
NM_001174150.2(ARL13B):c.477G>T (p.Leu159=)
NM_001174150.2(ARL13B):c.485T>C (p.Ile162Thr) rs1576026230
NM_001174150.2(ARL13B):c.486+12T>G rs778884829
NM_001174150.2(ARL13B):c.486+13T>G
NM_001174150.2(ARL13B):c.486+15T>A
NM_001174150.2(ARL13B):c.486+22del rs368491848
NM_001174150.2(ARL13B):c.487-11T>C rs2107118009
NM_001174150.2(ARL13B):c.487-15_487-12del rs2107117976
NM_001174150.2(ARL13B):c.487-16T>C
NM_001174150.2(ARL13B):c.487-3T>C rs757167797
NM_001174150.2(ARL13B):c.487-5T>C rs2076770928
NM_001174150.2(ARL13B):c.487G>C (p.Glu163Gln)
NM_001174150.2(ARL13B):c.493T>C (p.Cys165Arg) rs2076771227
NM_001174150.2(ARL13B):c.533C>A (p.Ser178Tyr)
NM_001174150.2(ARL13B):c.538A>T (p.Lys180Ter)
NM_001174150.2(ARL13B):c.550del (p.Tyr184fs)
NM_001174150.2(ARL13B):c.556C>T (p.Leu186=)
NM_001174150.2(ARL13B):c.57C>A (p.Val19=) rs1326813345
NM_001174150.2(ARL13B):c.59+14del
NM_001174150.2(ARL13B):c.59+15G>A
NM_001174150.2(ARL13B):c.59+16C>G
NM_001174150.2(ARL13B):c.59+18G>C rs748002391
NM_001174150.2(ARL13B):c.59+20C>G
NM_001174150.2(ARL13B):c.59+20C>T
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.599G>A (p.Arg200His) rs764109067
NM_001174150.2(ARL13B):c.60-18A>G
NM_001174150.2(ARL13B):c.60-19A>T
NM_001174150.2(ARL13B):c.60-20T>A rs2107383939
NM_001174150.2(ARL13B):c.607_609del (p.Lys203del)
NM_001174150.2(ARL13B):c.626G>A (p.Arg209His) rs199790565
NM_001174150.2(ARL13B):c.629C>T (p.Ala210Val)
NM_001174150.2(ARL13B):c.648A>G (p.Lys216=)
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001174150.2(ARL13B):c.680G>A (p.Arg227Gln)
NM_001174150.2(ARL13B):c.680_682del (p.Arg227_Glu228delinsGln) rs1560004664
NM_001174150.2(ARL13B):c.682G>A (p.Glu228Lys) rs752848590
NM_001174150.2(ARL13B):c.688A>G (p.Arg230Gly)
NM_001174150.2(ARL13B):c.689+12_689+13delinsCC rs2107120000
NM_001174150.2(ARL13B):c.689+8_689+11del rs2107119977
NM_001174150.2(ARL13B):c.6C>T (p.Phe2=) rs2107299111
NM_001174150.2(ARL13B):c.709C>T (p.Gln237Ter)
NM_001174150.2(ARL13B):c.70C>T (p.Leu24Phe)
NM_001174150.2(ARL13B):c.721G>T (p.Asp241Tyr)
NM_001174150.2(ARL13B):c.730A>G (p.Ser244Gly)
NM_001174150.2(ARL13B):c.73_74del (p.Leu25fs)
NM_001174150.2(ARL13B):c.76A>G (p.Met26Val)
NM_001174150.2(ARL13B):c.778A>G (p.Ile260Val)
NM_001174150.2(ARL13B):c.783A>G (p.Ala261=) rs1239193677
NM_001174150.2(ARL13B):c.798+16A>G
NM_001174150.2(ARL13B):c.798+4T>C
NM_001174150.2(ARL13B):c.798+8T>A rs1044514627
NM_001174150.2(ARL13B):c.798+8T>C rs1044514627
NM_001174150.2(ARL13B):c.798G>A (p.Glu266=) rs2076835930
NM_001174150.2(ARL13B):c.799-18T>C rs2107150772
NM_001174150.2(ARL13B):c.807A>G (p.Gly269=)
NM_001174150.2(ARL13B):c.818G>C (p.Arg273Thr) rs1560009891
NM_001174150.2(ARL13B):c.819A>G (p.Arg273=) rs2107151106
NM_001174150.2(ARL13B):c.823A>G (p.Lys275Glu)
NM_001174150.2(ARL13B):c.830A>G (p.Asn277Ser) rs142635985
NM_001174150.2(ARL13B):c.830del (p.Asn277fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001174150.2(ARL13B):c.836A>T (p.Lys279Ile) rs2076889650
NM_001174150.2(ARL13B):c.839T>C (p.Met280Thr) rs876661075
NM_001174150.2(ARL13B):c.847G>C (p.Asp283His)
NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)
NM_001174150.2(ARL13B):c.884A>G (p.His295Arg) rs2076891307
NM_001174150.2(ARL13B):c.898A>T (p.Thr300Ser) rs2076891815
NM_001174150.2(ARL13B):c.899C>T (p.Thr300Ile)
NM_001174150.2(ARL13B):c.910G>A (p.Val304Ile)
NM_001174150.2(ARL13B):c.932dup (p.Asn311fs) rs750642821
NM_001174150.2(ARL13B):c.940T>G (p.Phe314Val) rs2107152334
NM_001174150.2(ARL13B):c.959A>T (p.Tyr320Phe) rs2076893582
NM_001174150.2(ARL13B):c.968C>T (p.Ala323Val) rs2076893818
NM_001174150.2(ARL13B):c.986dup (p.Asn330fs) rs2107152691
NM_001174150.2(ARL13B):c.995A>G (p.Asp332Gly) rs1224858871
NM_001174150.2(ARL13B):c.996T>C (p.Asp332=)

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