ClinVar Miner

List of variants in gene ARL13B reported as uncertain significance for Joubert syndrome

Included ClinVar conditions (87):
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Gene type:
ClinVar version:
Total variants: 136
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HGVS dbSNP gnomAD frequency
NM_001174150.2(ARL13B):c.1151G>A (p.Gly384Glu) rs146264035 0.00143
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.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.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.30C>T (p.Gly10=) rs375770842 0.00006
NM_001174150.2(ARL13B):c.379G>T (p.Val127Leu) rs771933896 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.781G>A (p.Ala261Thr) rs950077926 0.00004
NM_001174150.2(ARL13B):c.1007G>A (p.Arg336Gln) rs550306731 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.811C>G (p.Leu271Val) rs1232686117 0.00003
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.873T>A (p.His291Gln) rs143435132 0.00002
NM_001174150.2(ARL13B):c.1006C>T (p.Arg336Trp) rs774235804 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.1133C>T (p.Pro378Leu) rs1385061611 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.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.360A>G (p.Ile120Met) rs1258750655 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.551A>G (p.Tyr184Cys) rs773654634 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.715G>A (p.Glu239Lys) rs778540135 0.00001
NM_001174150.2(ARL13B):c.721G>A (p.Asp241Asn) rs757984271 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.834A>T (p.Gln278His) rs772186970 0.00001
NM_001174150.2(ARL13B):c.841G>A (p.Glu281Lys) rs745765178 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.(?_93768230)_(93772107_?)dup
NM_001174150.2(ARL13B):c.*1818ATATA[1] rs752990716
NM_001174150.2(ARL13B):c.*1_*4delACAA
NM_001174150.2(ARL13B):c.1020A>T (p.Glu340Asp)
NM_001174150.2(ARL13B):c.1024+6_1024+9del
NM_001174150.2(ARL13B):c.1025-3T>A rs373375837
NM_001174150.2(ARL13B):c.1033A>G (p.Lys345Glu) rs2107191077
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.1094A>G (p.Asp365Gly) rs1466606984
NM_001174150.2(ARL13B):c.1132C>G (p.Pro378Ala)
NM_001174150.2(ARL13B):c.1144G>T (p.Gly382Cys)
NM_001174150.2(ARL13B):c.1165A>G (p.Thr389Ala)
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+1G>T rs1057414428
NM_001174150.2(ARL13B):c.1211-1G>C rs767291160
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.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.154A>G (p.Thr52Ala) rs1431090403
NM_001174150.2(ARL13B):c.174_191dup (p.Gly63_Lys64insAsnAsnLeuArgGlnGly) rs2107435150
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.233T>C (p.Ile78Thr) rs2076090139
NM_001174150.2(ARL13B):c.238G>A (p.Gly80Arg)
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.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.437G>A (p.Cys146Tyr) rs865931355
NM_001174150.2(ARL13B):c.466C>T (p.His156Tyr)
NM_001174150.2(ARL13B):c.485T>C (p.Ile162Thr) rs1576026230
NM_001174150.2(ARL13B):c.487-3T>C rs757167797
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.59+16C>G
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.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.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.76A>G (p.Met26Val)
NM_001174150.2(ARL13B):c.778A>G (p.Ile260Val)
NM_001174150.2(ARL13B):c.798+4T>C
NM_001174150.2(ARL13B):c.798G>A (p.Glu266=) rs2076835930
NM_001174150.2(ARL13B):c.818G>C (p.Arg273Thr) rs1560009891
NM_001174150.2(ARL13B):c.823A>G (p.Lys275Glu)
NM_001174150.2(ARL13B):c.830A>G (p.Asn277Ser) rs142635985
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.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.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.995A>G (p.Asp332Gly) rs1224858871

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