ClinVar Miner

List of variants in gene TBC1D24 reported by GeneDx

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Gene type:
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Total variants: 157
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HGVS dbSNP
NM_001199107.1(TBC1D24):c.983+15_983+16delGT rs1064794673
NM_001199107.2(TBC1D24):c.*2G>A rs780054979
NM_001199107.2(TBC1D24):c.-115-101G>A
NM_001199107.2(TBC1D24):c.-115-17T>C rs891836551
NM_001199107.2(TBC1D24):c.-115-244T>A
NM_001199107.2(TBC1D24):c.-116+13G>C rs1057522733
NM_001199107.2(TBC1D24):c.-116+18G>T
NM_001199107.2(TBC1D24):c.-116+3G>T rs998707315
NM_001199107.2(TBC1D24):c.-119G>C rs1230756942
NM_001199107.2(TBC1D24):c.-121G>A rs1057521709
NM_001199107.2(TBC1D24):c.-134G>C rs1346593000
NM_001199107.2(TBC1D24):c.-137_-135GAG[1] rs1010877040
NM_001199107.2(TBC1D24):c.-15G>A rs201377976
NM_001199107.2(TBC1D24):c.-15G>C rs201377976
NM_001199107.2(TBC1D24):c.-18C>T rs373691424
NM_001199107.2(TBC1D24):c.-30C>T rs371415659
NM_001199107.2(TBC1D24):c.-31T>C rs13339105
NM_001199107.2(TBC1D24):c.-35del
NM_001199107.2(TBC1D24):c.-7C>T rs199852092
NM_001199107.2(TBC1D24):c.-99C>G rs540861763
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1011A>C (p.Ala337=)
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069
NM_001199107.2(TBC1D24):c.1026G>A (p.Ser342=) rs370244846
NM_001199107.2(TBC1D24):c.1028A>C (p.Glu343Ala) rs188124777
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517
NM_001199107.2(TBC1D24):c.1126G>C (p.Gly376Arg) rs796053408
NM_001199107.2(TBC1D24):c.1142+14G>A rs745904419
NM_001199107.2(TBC1D24):c.1142+17C>A rs199499346
NM_001199107.2(TBC1D24):c.1143-15G>A rs371213803
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.1206+13C>T rs376162122
NM_001199107.2(TBC1D24):c.1206+205G>T
NM_001199107.2(TBC1D24):c.1207-16C>G rs201618854
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=)
NM_001199107.2(TBC1D24):c.1302+134C>T
NM_001199107.2(TBC1D24):c.1302+138C>T
NM_001199107.2(TBC1D24):c.1302+14A>C rs528462687
NM_001199107.2(TBC1D24):c.1302+158T>C
NM_001199107.2(TBC1D24):c.1303-157T>C
NM_001199107.2(TBC1D24):c.1303-5C>G rs1468286638
NM_001199107.2(TBC1D24):c.1305G>C (p.Leu435=) rs774088745
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869
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.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.1449G>C (p.Leu483=) rs753258278
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263
NM_001199107.2(TBC1D24):c.1457G>A (p.Arg486His) rs796053405
NM_001199107.2(TBC1D24):c.1467C>T (p.Asn489=) rs779963634
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146
NM_001199107.2(TBC1D24):c.1482C>G (p.Thr494=) rs373862230
NM_001199107.2(TBC1D24):c.1490T>C (p.Met497Thr) rs367710709
NM_001199107.2(TBC1D24):c.1499C>T (p.Ala500Val) rs564477999
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992
NM_001199107.2(TBC1D24):c.1503G>A (p.Gly501=) rs368735897
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167
NM_001199107.2(TBC1D24):c.1510G>A (p.Asp504Asn) rs767925237
NM_001199107.2(TBC1D24):c.1525+13A>C rs751260694
NM_001199107.2(TBC1D24):c.1525+17G>A rs537260143
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935
NM_001199107.2(TBC1D24):c.1526-13G>A rs766052989
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1526G>T (p.Gly509Val) rs796053406
NM_001199107.2(TBC1D24):c.1590C>G (p.Cys530Trp) rs1060502501
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084
NM_001199107.2(TBC1D24):c.1633A>G (p.Ile545Val) rs773874436
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
NM_001199107.2(TBC1D24):c.1641C>T (p.Ala547=)
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520
NM_001199107.2(TBC1D24):c.170G>A (p.Arg57His) rs370100394
NM_001199107.2(TBC1D24):c.178C>T (p.Arg60Trp) rs373914077
NM_001199107.2(TBC1D24):c.179G>A (p.Arg60Gln) rs200226466
NM_001199107.2(TBC1D24):c.192C>A (p.Cys64Ter) rs878854271
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999
NM_001199107.2(TBC1D24):c.207T>C (p.Pro69=) rs13339237
NM_001199107.2(TBC1D24):c.20A>G (p.Asn7Ser) rs765897138
NM_001199107.2(TBC1D24):c.210C>T (p.Asp70=) rs373872223
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026
NM_001199107.2(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784
NM_001199107.2(TBC1D24):c.27C>T (p.Phe9=) rs759193465
NM_001199107.2(TBC1D24):c.312C>T (p.Tyr104=) rs754301066
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.340G>A (p.Val114Met) rs368575199
NM_001199107.2(TBC1D24):c.343C>T (p.Arg115Cys) rs372531999
NM_001199107.2(TBC1D24):c.344G>A (p.Arg115His) rs201174513
NM_001199107.2(TBC1D24):c.379G>A (p.Asp127Asn) rs750962753
NM_001199107.2(TBC1D24):c.408C>T (p.Ala136=) rs3810796
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.442G>T (p.Glu148Ter) rs763626059
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.483C>A (p.Cys161Ter) rs745800110
NM_001199107.2(TBC1D24):c.48C>T (p.Asp16=) rs555276293
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.492C>T (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122
NM_001199107.2(TBC1D24):c.557del (p.Leu186fs) rs1131691737
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.578C>T (p.Ala193Val) rs750266156
NM_001199107.2(TBC1D24):c.579G>T (p.Ala193=) rs1394269760
NM_001199107.2(TBC1D24):c.58C>T (p.Gln20Ter) rs201257588
NM_001199107.2(TBC1D24):c.605C>T (p.Ser202Leu) rs796053400
NM_001199107.2(TBC1D24):c.619C>T (p.Gln207Ter) rs770107050
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169
NM_001199107.2(TBC1D24):c.676G>A (p.Ala226Thr) rs796053401
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
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.724C>T (p.Arg242Cys) rs398122965
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=)
NM_001199107.2(TBC1D24):c.776C>T (p.Pro259Leu) rs779398267
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393
NM_001199107.2(TBC1D24):c.816C>A (p.Phe272Leu) rs796053402
NM_001199107.2(TBC1D24):c.820A>G (p.Arg274Gly) rs760591932
NM_001199107.2(TBC1D24):c.829G>T (p.Ala277Ser) rs754019727
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.871G>A (p.Ala291Thr) rs375307187
NM_001199107.2(TBC1D24):c.878G>A (p.Arg293His) rs199700840
NM_001199107.2(TBC1D24):c.885C>G (p.Phe295Leu) rs72768728
NM_001199107.2(TBC1D24):c.890G>A (p.Arg297His) rs760666914
NM_001199107.2(TBC1D24):c.90T>C (p.Thr30=) rs575173753
NM_001199107.2(TBC1D24):c.920A>C (p.Asn307Thr) rs761934676
NM_001199107.2(TBC1D24):c.948C>T (p.Ile316=) rs1057522754
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001199107.2(TBC1D24):c.965+11G>A rs568663296
NM_001199107.2(TBC1D24):c.965+8G>A rs372247100
NM_001199107.2(TBC1D24):c.971C>A (p.Ser324Ter) rs1567412736
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404
NM_001199107.2(TBC1D24):c.984-5C>G rs535021783
NM_020705.2:c.+1C>T

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