ClinVar Miner

List of variants in gene ARL13B reported as likely benign for Joubert syndrome

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 110
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HGVS dbSNP gnomAD frequency
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.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.1032T>C (p.Gly344=) rs561410801 0.00020
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.441A>G (p.Leu147=) rs148354827 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.1007G>A (p.Arg336Gln) rs550306731 0.00003
NM_001174150.2(ARL13B):c.120A>G (p.Gly40=) rs774691904 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.501A>C (p.Ala167=) rs774807971 0.00002
NM_001174150.2(ARL13B):c.981G>A (p.Gln327=) rs749088942 0.00002
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.1119G>A (p.Thr373=) rs746618270 0.00001
NM_001174150.2(ARL13B):c.1142-12C>A rs201429461 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.380+19A>T rs1016476537 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.59+14A>G rs762514257 0.00001
NM_001174150.2(ARL13B):c.5T>G (p.Phe2Cys) rs555792435 0.00001
NM_001174150.2(ARL13B):c.689+13A>T rs750183691 0.00001
NM_001174150.2(ARL13B):c.699T>C (p.Asn233=) rs760352687 0.00001
NM_001174150.2(ARL13B):c.720C>T (p.Leu240=) rs752196300 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.846A>G (p.Lys282=) rs769736361 0.00001
NM_001174150.2(ARL13B):c.1006C>A (p.Arg336=)
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+9T>A
NM_001174150.2(ARL13B):c.1025-20T>C
NM_001174150.2(ARL13B):c.1050A>G (p.Lys350=) rs2107191221
NM_001174150.2(ARL13B):c.1089T>C (p.Asn363=) rs2107191521
NM_001174150.2(ARL13B):c.108A>G (p.Ala36=)
NM_001174150.2(ARL13B):c.1125C>T (p.Pro375=)
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+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.1164C>T (p.Val388=) rs1474936663
NM_001174150.2(ARL13B):c.1182T>A (p.Leu394=)
NM_001174150.2(ARL13B):c.1210+14A>G
NM_001174150.2(ARL13B):c.1210+16del rs2107198501
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.1211-5_1211-4del
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.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.131-9T>C
NM_001174150.2(ARL13B):c.18C>T (p.Ala6=)
NM_001174150.2(ARL13B):c.380+8A>T rs1367254699
NM_001174150.2(ARL13B):c.429C>T (p.Val143=) rs2107111571
NM_001174150.2(ARL13B):c.454T>C (p.Leu152=)
NM_001174150.2(ARL13B):c.477G>T (p.Leu159=)
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.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.487-5T>C rs2076770928
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+18G>C rs748002391
NM_001174150.2(ARL13B):c.59+20C>G
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.648A>G (p.Lys216=)
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.783A>G (p.Ala261=) rs1239193677
NM_001174150.2(ARL13B):c.798+16A>G
NM_001174150.2(ARL13B):c.798+8T>A rs1044514627
NM_001174150.2(ARL13B):c.798+8T>C rs1044514627
NM_001174150.2(ARL13B):c.799-18T>C rs2107150772
NM_001174150.2(ARL13B):c.807A>G (p.Gly269=)
NM_001174150.2(ARL13B):c.819A>G (p.Arg273=) rs2107151106
NM_001174150.2(ARL13B):c.87T>G (p.Leu29=)
NM_001174150.2(ARL13B):c.996T>C (p.Asp332=)

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