ClinVar Miner

List of variants in gene TBC1D24 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_001199107.2(TBC1D24):c.*188C>T rs62040717 0.06494
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237 0.06245
NM_001199107.2(TBC1D24):c.-31T>C rs13339105 0.06095
NM_001199107.2(TBC1D24):c.*56C>T rs76267944 0.03630
NM_001199107.2(TBC1D24):c.-116+73C>T rs534611598 0.02428
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107 0.02286
NM_001199107.2(TBC1D24):c.1302+32C>T rs9938969 0.02259
NM_001199107.2(TBC1D24):c.1302+138C>T rs9939054 0.02136
NM_001199107.2(TBC1D24):c.1303-157T>C rs9931334 0.02123
NM_001199107.2(TBC1D24):c.1302+158T>C rs9931326 0.02120
NM_001199107.2(TBC1D24):c.1302+134C>T rs9939052 0.02116
NM_001199107.2(TBC1D24):c.1526-24G>A rs4074464 0.02079
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287 0.02047
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_001199107.2(TBC1D24):c.-115-244T>A rs59034110 0.00861
NM_001199107.2(TBC1D24):c.-115-101G>A rs138511243 0.00787
NM_001199107.2(TBC1D24):c.983+75T>G rs150926384 0.00694
NM_001199107.2(TBC1D24):c.-115-140C>A rs147119415 0.00667
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728 0.00609
NM_001199107.2(TBC1D24):c.1207-48C>T rs200545150 0.00516
NM_001199107.2(TBC1D24):c.1302+38C>T rs9938971 0.00481
NM_001199107.2(TBC1D24):c.965+280T>A rs541105690 0.00358
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001199107.2(TBC1D24):c.-115-60C>T rs7405238 0.00309
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.965+40G>A rs141697271 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.984-30C>T rs201128671 0.00165
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
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.-7C>T rs199852092 0.00126
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 0.00071
NM_001199107.2(TBC1D24):c.-18C>T rs373691424 0.00040
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803 0.00035
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690 0.00035
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466 0.00031
NM_001199107.2(TBC1D24):c.-99C>G rs540861763 0.00026
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00026
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883 0.00024
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840 0.00022
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715 0.00021
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844 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.1207-16C>G rs201618854 0.00016
NM_001199107.2(TBC1D24):c.340G>A (p.Val114Met) rs368575199 0.00016
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908 0.00016
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846 0.00012
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00011
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991 0.00011
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187 0.00011
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687 0.00009
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.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999 0.00008
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631 0.00007
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077 0.00007
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103 0.00007
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122 0.00007
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447 0.00006
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263 0.00006
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00006
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784 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.1525+17G>A rs537260143 0.00005
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110 0.00005
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588 0.00005
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393 0.00005
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419 0.00004
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys) rs368678094 0.00004
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369 0.00004
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709 0.00004
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293 0.00004
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083 0.00004
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450 0.00004
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324 0.00004
NM_001199107.2(TBC1D24):c.828C>T (p.Ile276=) rs764252146 0.00004
NM_001199107.2(TBC1D24):c.-15G>C rs201377976 0.00003
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069 0.00003
NM_001199107.2(TBC1D24):c.1079G>A (p.Arg360His) rs765965968 0.00003
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549 0.00003
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128 0.00003
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230 0.00003
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237 0.00003
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989 0.00003
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013 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.225C>T (p.Ser75=) rs201220026 0.00003
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513 0.00003
NM_001199107.2(TBC1D24):c.557del (p.Leu186fs) rs1131691737 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.90T>C (p.Thr30=) rs575173753 0.00003
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103 0.00003
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783 0.00003
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683 0.00002
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777 0.00002
NM_001199107.2(TBC1D24):c.1302+24A>G rs558891609 0.00002
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634 0.00002
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999 0.00002
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105 0.00002
NM_001199107.2(TBC1D24):c.1591G>A (p.Asp531Asn) rs757236821 0.00002
NM_001199107.2(TBC1D24):c.1675C>T (p.Gln559Ter) rs1253505916 0.00002
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys) rs750421791 0.00002
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met) rs371245371 0.00002
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059 0.00002
NM_001199107.2(TBC1D24):c.578C>T (p.Ala193Val) rs750266156 0.00002
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251 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.965+11G>A rs568663296 0.00002
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val) rs753105655 0.00002
NM_001199107.2(TBC1D24):c.*2G>A rs780054979 0.00001
NM_001199107.2(TBC1D24):c.-30C>T rs371415659 0.00001
NM_001199107.2(TBC1D24):c.117G>A (p.Ala39=) rs537494711 0.00001
NM_001199107.2(TBC1D24):c.118C>T (p.Arg40Cys) rs398122966 0.00001
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122 0.00001
NM_001199107.2(TBC1D24):c.1206+2T>C rs2065771781 0.00001
NM_001199107.2(TBC1D24):c.1206+6C>T rs974544530 0.00001
NM_001199107.2(TBC1D24):c.1207-11C>T rs778247648 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.1457G>A (p.Arg486His) rs796053405 0.00001
NM_001199107.2(TBC1D24):c.151C>T (p.Arg51Trp) rs886051844 0.00001
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694 0.00001
NM_001199107.2(TBC1D24):c.1530A>G (p.Gly510=) rs749232409 0.00001
NM_001199107.2(TBC1D24):c.1547_1562del (p.Leu516fs) rs2065786997 0.00001
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013 0.00001
NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser) rs765897138 0.00001
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465 0.00001
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066 0.00001
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796 0.00001
NM_001199107.2(TBC1D24):c.413T>C (p.Val138Ala) rs1162185369 0.00001
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831 0.00001
NM_001199107.2(TBC1D24):c.545C>T (p.Thr182Met) rs763670146 0.00001
NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter) rs770107050 0.00001
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372 0.00001
NM_001199107.2(TBC1D24):c.639G>C (p.Gln213His) rs1223160118 0.00001
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287 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.732G>A (p.Ala244=) rs554758752 0.00001
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932 0.00001
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100 0.00001
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696 0.00001
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711 0.00001
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404 0.00001
NM_001199107.2(TBC1D24):c.*36G>A rs73490289
NM_001199107.2(TBC1D24):c.*36G>T rs73490289
NM_001199107.2(TBC1D24):c.-115-17T>C rs891836551
NM_001199107.2(TBC1D24):c.-15G>A rs201377976
NM_001199107.2(TBC1D24):c.-35del rs1596967242
NM_001199107.2(TBC1D24):c.1011A>C (p.Ala337=) rs1596970393
NM_001199107.2(TBC1D24):c.1126G>C (p.Gly376Arg) rs796053408
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1171C>G (p.Pro391Ala) rs1435411888
NM_001199107.2(TBC1D24):c.1187T>A (p.Ile396Asn) rs2141875717
NM_001199107.2(TBC1D24):c.1206+205G>T rs114810921
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1305G>C (p.Leu435=) rs774088745
NM_001199107.2(TBC1D24):c.1322_1323del (p.Arg441fs) rs1596972653
NM_001199107.2(TBC1D24):c.1360_1363dup (p.Pro455fs) rs1292551263
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1387C>T (p.Pro463Ser)
NM_001199107.2(TBC1D24):c.1413C>T (p.Ala471=) rs761742075
NM_001199107.2(TBC1D24):c.1449G>C (p.Leu483=) rs753258278
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1529G>A (p.Gly510Glu) rs755880523
NM_001199107.2(TBC1D24):c.1540C>G (p.Gln514Glu)
NM_001199107.2(TBC1D24):c.1577G>A (p.Arg526His) rs752301570
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.1594A>G (p.Thr532Ala)
NM_001199107.2(TBC1D24):c.1600A>G (p.Asn534Asp)
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.167A>T (p.Gln56Leu) rs2141870903
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.177C>G (p.Ile59Met)
NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter) rs878854271
NM_001199107.2(TBC1D24):c.210C>A (p.Asp70Glu)
NM_001199107.2(TBC1D24):c.229ATCGTGGGCAAG[1] (p.77IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.299A>T (p.Gln100Leu) rs1433544007
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.327C>A (p.Arg109=) rs754551693
NM_001199107.2(TBC1D24):c.328G>A (p.Gly110Ser) rs747821285
NM_001199107.2(TBC1D24):c.331G>A (p.Glu111Lys) rs773211471
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.37G>A (p.Asp13Asn)
NM_001199107.2(TBC1D24):c.442G>A (p.Glu148Lys) rs763626059
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.448G>A (p.Glu150Lys)
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.477G>C (p.Leu159=)
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.561G>T (p.Val187=) rs1555501246
NM_001199107.2(TBC1D24):c.570C>T (p.Tyr190=) rs917806963
NM_001199107.2(TBC1D24):c.574C>T (p.Gln192Ter) rs2141871997
NM_001199107.2(TBC1D24):c.579G>T (p.Ala193=) rs1394269760
NM_001199107.2(TBC1D24):c.581C>T (p.Ala194Val)
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys) rs1159293544
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln) rs756181906
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.691_700delinsCTT (p.Val231fs) rs796053407
NM_001199107.2(TBC1D24):c.702G>A (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.702G>C (p.Val234=) rs188739853
NM_001199107.2(TBC1D24):c.750C>G (p.Phe250Leu) rs1555501289
NM_001199107.2(TBC1D24):c.751T>G (p.Phe251Val) rs267607104
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.816C>A (p.Phe272Leu) rs796053402
NM_001199107.2(TBC1D24):c.816C>T (p.Phe272=) rs796053402
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.877C>T (p.Arg293Cys)
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.913A>G (p.Met305Val) rs2141872743
NM_001199107.2(TBC1D24):c.919A>G (p.Asn307Asp)
NM_001199107.2(TBC1D24):c.920A>C (p.Asn307Thr) rs761934676
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val) rs1160994039
NM_001199107.2(TBC1D24):c.948C>T (p.Ile316=) rs1057522754
NM_001199107.2(TBC1D24):c.95T>G (p.Leu32Arg) rs2141870761
NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter) rs1567412736
NM_001199107.2(TBC1D24):c.983+15_983+16del rs1064794673
NM_020705.2:c.+1C>T

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