ClinVar Miner

List of variants in gene TBC1D24 studied for Inborn genetic diseases

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Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.05833
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02325
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00323
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477 0.00306
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463 0.00304
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500 0.00216
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169 0.00200
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316 0.00160
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225 0.00160
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00150
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187 0.00109
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00068
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00037
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001199107.2(TBC1D24):c.*1C>T rs370047688 0.00033
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00027
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00025
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00023
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015 0.00021
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169 0.00019
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897 0.00018
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 0.00018
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00013
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00011
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00010
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys) rs750028854 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00003
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932 0.00003
NM_001199107.2(TBC1D24):c.1360A>G (p.Lys454Glu) rs758697406 0.00003
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436 0.00003
NM_001199107.2(TBC1D24):c.199G>C (p.Val67Leu) rs751738454 0.00003
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223 0.00003
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys) rs398122965 0.00003
NM_001199107.2(TBC1D24):c.813G>A (p.Thr271=) rs527719763 0.00003
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1475C>T (p.Ser492Phe) rs1249590916 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.296C>T (p.Thr99Met) rs563225469 0.00002
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321 0.00002
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met) rs200263150 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145 0.00002
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491 0.00002
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001199107.2(TBC1D24):c.1003G>A (p.Val335Ile) rs889668249 0.00001
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00001
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742 0.00001
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984 0.00001
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791 0.00001
NM_001199107.2(TBC1D24):c.1432C>T (p.Arg478Cys) rs1391618286 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.257G>A (p.Ser86Asn) rs1334600600 0.00001
NM_001199107.2(TBC1D24):c.273G>A (p.Pro91=) rs762804146 0.00001
NM_001199107.2(TBC1D24):c.285C>T (p.Phe95=) rs774354974 0.00001
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945 0.00001
NM_001199107.2(TBC1D24):c.470G>A (p.Arg157His) rs1301489148 0.00001
NM_001199107.2(TBC1D24):c.503T>C (p.Leu168Pro) rs770847294 0.00001
NM_001199107.2(TBC1D24):c.530A>G (p.Glu177Gly) rs767035291 0.00001
NM_001199107.2(TBC1D24):c.643T>G (p.Trp215Gly) rs761347854 0.00001
NM_001199107.2(TBC1D24):c.670T>C (p.Tyr224His) rs781113681 0.00001
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401 0.00001
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886 0.00001
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906 0.00001
NM_001199107.2(TBC1D24):c.710A>G (p.Tyr237Cys) rs1471955155 0.00001
NM_001199107.2(TBC1D24):c.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.811A>G (p.Thr271Ala) rs565299079 0.00001
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727 0.00001
NM_001199107.2(TBC1D24):c.830C>T (p.Ala277Val) rs909267678 0.00001
NM_001199107.2(TBC1D24):c.840G>A (p.Val280=) rs2065748838 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001199107.2(TBC1D24):c.991G>A (p.Val331Ile) rs759817805 0.00001
NM_001199107.2(TBC1D24):c.1148A>G (p.Tyr383Cys)
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter) rs2065771024
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1208T>G (p.Val403Gly) rs2505524571
NM_001199107.2(TBC1D24):c.1349C>T (p.Pro450Leu) rs2505526429
NM_001199107.2(TBC1D24):c.1397C>T (p.Pro466Leu)
NM_001199107.2(TBC1D24):c.1422C>A (p.Asp474Glu)
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln) rs765396824
NM_001199107.2(TBC1D24):c.1488C>A (p.Ser496=) rs2505527330
NM_001199107.2(TBC1D24):c.1510G>T (p.Asp504Tyr) rs767925237
NM_001199107.2(TBC1D24):c.1540C>G (p.Gln514Glu) rs746057710
NM_001199107.2(TBC1D24):c.1552A>G (p.Ile518Val) rs777273353
NM_001199107.2(TBC1D24):c.1555G>A (p.Asp519Asn) rs765963990
NM_001199107.2(TBC1D24):c.1577G>C (p.Arg526Pro) rs752301570
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.242T>C (p.Ile81Thr) rs1347306529
NM_001199107.2(TBC1D24):c.335G>A (p.Gly112Glu) rs2505513266
NM_001199107.2(TBC1D24):c.352del (p.Leu118fs) rs2505513372
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.384C>T (p.Ile128=) rs754479878
NM_001199107.2(TBC1D24):c.396C>T (p.Pro132=) rs371937830
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.404del (p.Pro135fs) rs2505513738
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.489C>T (p.Asp163=) rs2505514329
NM_001199107.2(TBC1D24):c.520C>G (p.Leu174Val) rs2505514480
NM_001199107.2(TBC1D24):c.541A>G (p.Met181Val) rs2065744330
NM_001199107.2(TBC1D24):c.629C>G (p.Ala210Gly)
NM_001199107.2(TBC1D24):c.664C>G (p.Leu222Val)
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.77A>C (p.Glu26Ala) rs373393763
NM_001199107.2(TBC1D24):c.838G>A (p.Val280Met) rs867618745
NM_001199107.2(TBC1D24):c.965G>A (p.Ser322Asn) rs1567412410

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