ClinVar Miner

List of variants in gene TBCE reported as likely benign for not provided

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Gene type:
ClinVar version:
Total variants: 245
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HGVS dbSNP gnomAD frequency
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_003193.5(TBCE):c.964-32C>T rs12131040 0.02161
NM_003193.5(TBCE):c.372-400A>G rs149588837 0.01643
NM_003193.5(TBCE):c.964-211G>A rs139544075 0.01137
NM_003193.5(TBCE):c.963+232C>T rs144338610 0.01111
NM_003193.5(TBCE):c.738-216A>G rs116568880 0.01030
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003193.5(TBCE):c.194C>A (p.Thr65Lys) rs144747353 0.00153
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu) rs147489278 0.00135
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu) rs148616786 0.00122
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_003193.5(TBCE):c.915G>C (p.Met305Ile) rs142462266 0.00067
NM_003193.5(TBCE):c.945C>T (p.Asn315=) rs138014826 0.00060
NM_003193.5(TBCE):c.833+8G>T rs372236046 0.00056
NM_003193.5(TBCE):c.835T>C (p.Leu279=) rs147049084 0.00033
NM_003193.5(TBCE):c.403A>C (p.Arg135=) rs141117231 0.00025
NM_003193.5(TBCE):c.708T>G (p.Leu236=) rs141498084 0.00025
NM_003193.5(TBCE):c.843A>G (p.Gln281=) rs190849182 0.00022
NM_003193.5(TBCE):c.1206G>A (p.Pro402=) rs369000163 0.00019
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp) rs75832955 0.00018
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003193.5(TBCE):c.100+12_100+17del rs759705733 0.00014
NM_003193.5(TBCE):c.460+14C>T rs143717755 0.00014
NM_003193.5(TBCE):c.738-12T>A rs370888603 0.00012
NM_003193.5(TBCE):c.909G>A (p.Thr303=) rs202063874 0.00012
NM_003193.5(TBCE):c.560+8C>T rs376268347 0.00009
NM_003193.5(TBCE):c.1263C>G (p.Leu421=) rs199943206 0.00008
NM_003193.5(TBCE):c.1059G>A (p.Thr353=) rs542526764 0.00006
NM_003193.5(TBCE):c.501A>G (p.Ser167=) rs572878750 0.00006
NM_003193.5(TBCE):c.898+5A>T rs182294717 0.00006
NM_003193.5(TBCE):c.1215C>T (p.Asn405=) rs752517844 0.00004
NM_003193.5(TBCE):c.342C>T (p.Ile114=) rs752345424 0.00004
NM_003193.5(TBCE):c.964-11C>T rs565145666 0.00004
NM_003193.5(TBCE):c.1101G>A (p.Thr367=) rs750203834 0.00003
NM_003193.5(TBCE):c.1117-7A>G rs199775124 0.00003
NM_003193.5(TBCE):c.808C>T (p.Leu270=) rs200169233 0.00003
NM_003193.5(TBCE):c.1270+8C>T rs778443999 0.00002
NM_003193.5(TBCE):c.1270+9G>A rs748495327 0.00002
NM_003193.5(TBCE):c.606G>A (p.Thr202=) rs781690260 0.00002
NM_003193.5(TBCE):c.678G>A (p.Ala226=) rs757127216 0.00002
NM_003193.5(TBCE):c.1062G>A (p.Ala354=) rs769872412 0.00001
NM_003193.5(TBCE):c.1125C>T (p.Pro375=) rs762683460 0.00001
NM_003193.5(TBCE):c.1260C>T (p.Phe420=) rs1278346319 0.00001
NM_003193.5(TBCE):c.1270+7G>C rs769172119 0.00001
NM_003193.5(TBCE):c.133G>A (p.Glu45Lys) rs199888401 0.00001
NM_003193.5(TBCE):c.285A>G (p.Pro95=) rs370008855 0.00001
NM_003193.5(TBCE):c.738-19A>G rs1385695725 0.00001
NM_003193.5(TBCE):c.765G>A (p.Lys255=) rs764892500 0.00001
NM_003193.5(TBCE):c.899-17C>T rs376744013 0.00001
NM_003193.5(TBCE):c.100+11_100+15del
NM_003193.5(TBCE):c.100+11_100+17del
NM_003193.5(TBCE):c.100+11_100+21del
NM_003193.5(TBCE):c.100+11_100+27del rs778119869
NM_003193.5(TBCE):c.100+11_100+29del
NM_003193.5(TBCE):c.100+11_100+31del
NM_003193.5(TBCE):c.100+13TG[11] rs10524346
NM_003193.5(TBCE):c.100+13TG[12] rs10524346
NM_003193.5(TBCE):c.100+13TG[13] rs10524346
NM_003193.5(TBCE):c.100+13TG[17] rs10524346
NM_003193.5(TBCE):c.100+13TG[20] rs10524346
NM_003193.5(TBCE):c.100+13TG[21] rs10524346
NM_003193.5(TBCE):c.100+13TG[22] rs10524346
NM_003193.5(TBCE):c.100+13TG[23] rs10524346
NM_003193.5(TBCE):c.100+13TG[25] rs10524346
NM_003193.5(TBCE):c.100+13TG[27] rs10524346
NM_003193.5(TBCE):c.100+13TG[28] rs10524346
NM_003193.5(TBCE):c.100+15T>G rs886046149
NM_003193.5(TBCE):c.100+17T>G rs1256281643
NM_003193.5(TBCE):c.100+19T>G rs1294092411
NM_003193.5(TBCE):c.1002A>G (p.Leu334=)
NM_003193.5(TBCE):c.101-19G>T
NM_003193.5(TBCE):c.101-7C>T
NM_003193.5(TBCE):c.1014C>T (p.Ser338=)
NM_003193.5(TBCE):c.1018C>T (p.Leu340=)
NM_003193.5(TBCE):c.1020A>G (p.Leu340=)
NM_003193.5(TBCE):c.1029C>G (p.Pro343=)
NM_003193.5(TBCE):c.1041G>A (p.Glu347=)
NM_003193.5(TBCE):c.1056G>A (p.Glu352=)
NM_003193.5(TBCE):c.105C>T (p.Pro35=)
NM_003193.5(TBCE):c.1062G>T (p.Ala354=) rs769872412
NM_003193.5(TBCE):c.1065A>G (p.Arg355=)
NM_003193.5(TBCE):c.1065A>T (p.Arg355=)
NM_003193.5(TBCE):c.1077C>A (p.Ile359=)
NM_003193.5(TBCE):c.1077C>T (p.Ile359=)
NM_003193.5(TBCE):c.1083C>T (p.Ser361=)
NM_003193.5(TBCE):c.1093C>T (p.Leu365=)
NM_003193.5(TBCE):c.1116+11G>C
NM_003193.5(TBCE):c.1116+15C>T
NM_003193.5(TBCE):c.1116+16A>G
NM_003193.5(TBCE):c.1116+18G>A
NM_003193.5(TBCE):c.1116+7A>G
NM_003193.5(TBCE):c.1116+8C>T
NM_003193.5(TBCE):c.1117-10A>G
NM_003193.5(TBCE):c.1117-4A>C
NM_003193.5(TBCE):c.1117-9T>C
NM_003193.5(TBCE):c.1122C>T (p.Leu374=)
NM_003193.5(TBCE):c.1128G>A (p.Glu376=)
NM_003193.5(TBCE):c.1164T>C (p.Ala388=)
NM_003193.5(TBCE):c.1170A>G (p.Gly390=)
NM_003193.5(TBCE):c.1182A>G (p.Lys394=)
NM_003193.5(TBCE):c.1194A>T (p.Gly398=)
NM_003193.5(TBCE):c.1203T>C (p.Asp401=)
NM_003193.5(TBCE):c.1224C>T (p.Ser408=)
NM_003193.5(TBCE):c.1254C>T (p.Tyr418=)
NM_003193.5(TBCE):c.1257G>A (p.Gln419=)
NM_003193.5(TBCE):c.1270+14C>T rs2102929670
NM_003193.5(TBCE):c.1270+15A>G
NM_003193.5(TBCE):c.1270+53A>G
NM_003193.5(TBCE):c.13T>C (p.Leu5=)
NM_003193.5(TBCE):c.147T>C (p.His49=)
NM_003193.5(TBCE):c.150T>C (p.Asp50=)
NM_003193.5(TBCE):c.159C>T (p.His53=) rs754279473
NM_003193.5(TBCE):c.165G>A (p.Gly55=)
NM_003193.5(TBCE):c.185+12T>G
NM_003193.5(TBCE):c.185+18A>G
NM_003193.5(TBCE):c.186-15G>A
NM_003193.5(TBCE):c.186-4C>T
NM_003193.5(TBCE):c.189C>T (p.His63=)
NM_003193.5(TBCE):c.192G>A (p.Pro64=)
NM_003193.5(TBCE):c.192G>T (p.Pro64=)
NM_003193.5(TBCE):c.198A>G (p.Gly66=)
NM_003193.5(TBCE):c.201A>C (p.Gly67=)
NM_003193.5(TBCE):c.216G>A (p.Pro72=)
NM_003193.5(TBCE):c.216G>C (p.Pro72=)
NM_003193.5(TBCE):c.219C>T (p.Asn73=)
NM_003193.5(TBCE):c.21G>A (p.Ala7=)
NM_003193.5(TBCE):c.246T>G (p.Leu82=)
NM_003193.5(TBCE):c.252A>T (p.Ala84=)
NM_003193.5(TBCE):c.282A>T (p.Gly94=)
NM_003193.5(TBCE):c.294T>C (p.Asp98=)
NM_003193.5(TBCE):c.306A>G (p.Gln102=)
NM_003193.5(TBCE):c.330T>C (p.Pro110=)
NM_003193.5(TBCE):c.33T>C (p.Gly11=)
NM_003193.5(TBCE):c.351C>T (p.Asp117=)
NM_003193.5(TBCE):c.371+11T>A
NM_003193.5(TBCE):c.371+13_371+15dup
NM_003193.5(TBCE):c.371+15dup
NM_003193.5(TBCE):c.371+18C>T
NM_003193.5(TBCE):c.371+19G>A
NM_003193.5(TBCE):c.372-10T>C rs931651997
NM_003193.5(TBCE):c.372-13G>C
NM_003193.5(TBCE):c.372-13G>T
NM_003193.5(TBCE):c.372-5T>C
NM_003193.5(TBCE):c.372-6A>G
NM_003193.5(TBCE):c.378G>C (p.Leu126=)
NM_003193.5(TBCE):c.384G>A (p.Lys128=)
NM_003193.5(TBCE):c.396T>C (p.Val132=)
NM_003193.5(TBCE):c.399T>C (p.Ser133=)
NM_003193.5(TBCE):c.417A>G (p.Val139=)
NM_003193.5(TBCE):c.447T>C (p.Ala149=)
NM_003193.5(TBCE):c.460+15G>A
NM_003193.5(TBCE):c.460+15G>C
NM_003193.5(TBCE):c.460+15G>T rs371500222
NM_003193.5(TBCE):c.460+18A>C
NM_003193.5(TBCE):c.460+20C>A rs2102891797
NM_003193.5(TBCE):c.461-10G>A
NM_003193.5(TBCE):c.461-11T>C
NM_003193.5(TBCE):c.461-12A>G
NM_003193.5(TBCE):c.461-12_461-11del
NM_003193.5(TBCE):c.461-18C>G
NM_003193.5(TBCE):c.462T>C (p.Asn154=)
NM_003193.5(TBCE):c.483A>C (p.Ser161=)
NM_003193.5(TBCE):c.498A>G (p.Ser166=)
NM_003193.5(TBCE):c.51T>C (p.Asn17=)
NM_003193.5(TBCE):c.540C>T (p.His180=) rs142804756
NM_003193.5(TBCE):c.560+11T>G
NM_003193.5(TBCE):c.560+14_560+15del
NM_003193.5(TBCE):c.560+17del
NM_003193.5(TBCE):c.561-16T>G
NM_003193.5(TBCE):c.561-17C>A
NM_003193.5(TBCE):c.567T>C (p.Asn189=)
NM_003193.5(TBCE):c.591A>G (p.Ser197=)
NM_003193.5(TBCE):c.609T>C (p.Leu203=)
NM_003193.5(TBCE):c.630C>T (p.Val210=)
NM_003193.5(TBCE):c.633C>T (p.Leu211=)
NM_003193.5(TBCE):c.651G>A (p.Thr217=)
NM_003193.5(TBCE):c.660+13_660+16del
NM_003193.5(TBCE):c.660+14T>A
NM_003193.5(TBCE):c.660+16del rs758848178
NM_003193.5(TBCE):c.660+9_660+10del rs569925016
NM_003193.5(TBCE):c.661-1190T>C
NM_003193.5(TBCE):c.661-1226T>C
NM_003193.5(TBCE):c.661-1238C>T
NM_003193.5(TBCE):c.661-1277del rs747061160
NM_003193.5(TBCE):c.661-15G>A
NM_003193.5(TBCE):c.661-16C>T
NM_003193.5(TBCE):c.661-17C>G
NM_003193.5(TBCE):c.661-20G>A
NM_003193.5(TBCE):c.661-7C>T
NM_003193.5(TBCE):c.661-9C>G
NM_003193.5(TBCE):c.669G>C (p.Arg223=)
NM_003193.5(TBCE):c.675C>T (p.Val225=)
NM_003193.5(TBCE):c.684C>T (p.Cys228=)
NM_003193.5(TBCE):c.687A>T (p.Pro229=)
NM_003193.5(TBCE):c.693G>A (p.Leu231=)
NM_003193.5(TBCE):c.732C>T (p.Ser244=)
NM_003193.5(TBCE):c.737+14dup
NM_003193.5(TBCE):c.737+15_737+18del
NM_003193.5(TBCE):c.737+17T>G rs2102920332
NM_003193.5(TBCE):c.737+18A>T
NM_003193.5(TBCE):c.737+20A>C
NM_003193.5(TBCE):c.738-13A>G
NM_003193.5(TBCE):c.738-17T>A
NM_003193.5(TBCE):c.738-8C>T
NM_003193.5(TBCE):c.75T>C (p.Phe25=)
NM_003193.5(TBCE):c.789A>G (p.Gln263=)
NM_003193.5(TBCE):c.813T>C (p.Tyr271=)
NM_003193.5(TBCE):c.822C>A (p.Ala274=) rs1681413232
NM_003193.5(TBCE):c.833+11C>T
NM_003193.5(TBCE):c.833+14A>G rs2102922984
NM_003193.5(TBCE):c.834-13T>C
NM_003193.5(TBCE):c.834-18G>A
NM_003193.5(TBCE):c.834-20T>C rs1681448670
NM_003193.5(TBCE):c.834-9G>A
NM_003193.5(TBCE):c.837A>G (p.Leu279=) rs1572431121
NM_003193.5(TBCE):c.879T>C (p.His293=)
NM_003193.5(TBCE):c.898+10A>T
NM_003193.5(TBCE):c.898+19G>T
NM_003193.5(TBCE):c.899-10C>T
NM_003193.5(TBCE):c.899-12C>T
NM_003193.5(TBCE):c.899-12del
NM_003193.5(TBCE):c.899-17C>A
NM_003193.5(TBCE):c.899-7T>G
NM_003193.5(TBCE):c.930G>A (p.Lys310=)
NM_003193.5(TBCE):c.93C>G (p.Pro31=)
NM_003193.5(TBCE):c.93C>T (p.Pro31=)
NM_003193.5(TBCE):c.954G>A (p.Gln318=)
NM_003193.5(TBCE):c.963+13C>A
NM_003193.5(TBCE):c.963+13C>G
NM_003193.5(TBCE):c.963+13C>T
NM_003193.5(TBCE):c.963+14G>A
NM_003193.5(TBCE):c.963+19A>G
NM_003193.5(TBCE):c.964-7_964-6del
NM_003193.5(TBCE):c.969G>A (p.Ser323=)
NM_003193.5(TBCE):c.972T>C (p.Phe324=)
NM_003193.5(TBCE):c.978T>C (p.Asn326=)
NM_003193.5(TBCE):c.984A>G (p.Leu328=)
NM_003193.5(TBCE):c.990G>A (p.Lys330=)
NM_003193.5(TBCE):c.996A>C (p.Pro332=)

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