ClinVar Miner

List of variants in gene TBC1D24 reported by Invitae

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Gene type:
ClinVar version:
Total variants: 217
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HGVS dbSNP
NC_000016.10:g.(?_2496129)_(2500978_?)del
NC_000016.9:g.(?_2546130)_(2550979_?)dup
NM_001199107.2(TBC1D24):c.1002C>T (p.Ala334=) rs184389316
NM_001199107.2(TBC1D24):c.1008del (p.His336fs) rs398122967
NM_001199107.2(TBC1D24):c.1015A>G (p.Asn339Asp) rs574768683
NM_001199107.2(TBC1D24):c.1021C>T (p.Arg341Cys) rs1406095259
NM_001199107.2(TBC1D24):c.1022G>A (p.Arg341His) rs754727069
NM_001199107.2(TBC1D24):c.1025C>G (p.Ser342Trp)
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.102A>G (p.Glu34=) rs1178639246
NM_001199107.2(TBC1D24):c.1032C>G (p.Ile344Met)
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825
NM_001199107.2(TBC1D24):c.1039G>A (p.Val347Met) rs371031447
NM_001199107.2(TBC1D24):c.1049T>C (p.Met350Thr) rs1475264921
NM_001199107.2(TBC1D24):c.1052G>A (p.Arg351Lys)
NM_001199107.2(TBC1D24):c.1071C>T (p.Val357=) rs760897479
NM_001199107.2(TBC1D24):c.1072C>A (p.Pro358Thr) rs368150932
NM_001199107.2(TBC1D24):c.1074C>T (p.Pro358=) rs75961715
NM_001199107.2(TBC1D24):c.1075G>C (p.Glu359Gln)
NM_001199107.2(TBC1D24):c.1078C>T (p.Arg360Cys) rs1057519629
NM_001199107.2(TBC1D24):c.1110C>T (p.Phe370=) rs1555501404
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517
NM_001199107.2(TBC1D24):c.1131C>G (p.Tyr377Ter) rs1567413218
NM_001199107.2(TBC1D24):c.1142+6A>T rs778930581
NM_001199107.2(TBC1D24):c.1143-5G>T rs754105574
NM_001199107.2(TBC1D24):c.1143-6C>T rs73490287
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
NM_001199107.2(TBC1D24):c.116C>A (p.Ala39Glu) rs773916549
NM_001199107.2(TBC1D24):c.116C>T (p.Ala39Val) rs773916549
NM_001199107.2(TBC1D24):c.1196C>T (p.Thr399Met) rs61731477
NM_001199107.2(TBC1D24):c.119G>A (p.Arg40His)
NM_001199107.2(TBC1D24):c.1207-6C>G rs749626631
NM_001199107.2(TBC1D24):c.121C>T (p.Gln41Ter) rs1057524191
NM_001199107.2(TBC1D24):c.1238G>A (p.Ser413Asn)
NM_001199107.2(TBC1D24):c.1253T>C (p.Phe418Ser) rs776176742
NM_001199107.2(TBC1D24):c.1271T>G (p.Phe424Cys) rs1596972145
NM_001199107.2(TBC1D24):c.1278G>A (p.Gly426=) rs377748101
NM_001199107.2(TBC1D24):c.1281C>T (p.Thr427=) rs200089341
NM_001199107.2(TBC1D24):c.1303-5C>A
NM_001199107.2(TBC1D24):c.1321C>G (p.Arg441Gly) rs775497984
NM_001199107.2(TBC1D24):c.1321C>T (p.Arg441Cys) rs775497984
NM_001199107.2(TBC1D24):c.1322G>A (p.Arg441His) rs556865791
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.1327G>C (p.Glu443Gln) rs141399869
NM_001199107.2(TBC1D24):c.1341C>A (p.Ile447=) rs372317366
NM_001199107.2(TBC1D24):c.1350C>T (p.Pro450=) rs375320196
NM_001199107.2(TBC1D24):c.1353G>A (p.Glu451=) rs1231827471
NM_001199107.2(TBC1D24):c.1363C>G (p.Pro455Ala)
NM_001199107.2(TBC1D24):c.1367C>A (p.Pro456Gln) rs200641000
NM_001199107.2(TBC1D24):c.1367C>T (p.Pro456Leu) rs200641000
NM_001199107.2(TBC1D24):c.1384G>A (p.Glu462Lys)
NM_001199107.2(TBC1D24):c.1392C>T (p.Thr464=) rs199865687
NM_001199107.2(TBC1D24):c.1393G>A (p.Ala465Thr)
NM_001199107.2(TBC1D24):c.1410C>T (p.Ser470=) rs553497128
NM_001199107.2(TBC1D24):c.1411G>A (p.Ala471Thr) rs377448015
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383
NM_001199107.2(TBC1D24):c.1426G>A (p.Ala476Thr) rs773304369
NM_001199107.2(TBC1D24):c.1427C>A (p.Ala476Asp) rs202216463
NM_001199107.2(TBC1D24):c.1439C>T (p.Ser480Leu)
NM_001199107.2(TBC1D24):c.143A>T (p.His48Leu) rs761844771
NM_001199107.2(TBC1D24):c.1440G>A (p.Ser480=) rs12373107
NM_001199107.2(TBC1D24):c.144C>G (p.His48Gln)
NM_001199107.2(TBC1D24):c.1453G>A (p.Ala485Thr) rs774586263
NM_001199107.2(TBC1D24):c.1456C>T (p.Arg486Cys)
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.1490T>C (p.Met497Thr) rs367710709
NM_001199107.2(TBC1D24):c.1497G>A (p.Met499Ile)
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.1524C>T (p.Val508=) rs1333624924
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935
NM_001199107.2(TBC1D24):c.1525+7G>A rs1041091510
NM_001199107.2(TBC1D24):c.1525G>A (p.Gly509Arg) rs749994791
NM_001199107.2(TBC1D24):c.1526-2A>C rs1131691552
NM_001199107.2(TBC1D24):c.1536C>T (p.Gly512=)
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val) rs267607105
NM_001199107.2(TBC1D24):c.1548C>T (p.Leu516=) rs1555501692
NM_001199107.2(TBC1D24):c.154G>A (p.Gly52Arg) rs751753013
NM_001199107.2(TBC1D24):c.1560G>T (p.Gly520=)
NM_001199107.2(TBC1D24):c.1561G>A (p.Asp521Asn)
NM_001199107.2(TBC1D24):c.1570C>T (p.Arg524Trp) rs78644690
NM_001199107.2(TBC1D24):c.1571G>A (p.Arg524Gln) rs758997013
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.1590C>T (p.Cys530=) rs1060502501
NM_001199107.2(TBC1D24):c.1609C>T (p.Pro537Ser)
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084
NM_001199107.2(TBC1D24):c.1627T>C (p.Phe543Leu) rs1060502502
NM_001199107.2(TBC1D24):c.1641C>A (p.Ala547=) rs553215090
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.172del (p.Arg57_Leu58insTer) rs1555501140
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.187C>T (p.Pro63Ser)
NM_001199107.2(TBC1D24):c.192C>T (p.Cys64=) rs878854271
NM_001199107.2(TBC1D24):c.193C>T (p.Arg65Cys)
NM_001199107.2(TBC1D24):c.197C>T (p.Thr66Met)
NM_001199107.2(TBC1D24):c.198G>A (p.Thr66=) rs373088306
NM_001199107.2(TBC1D24):c.203C>G (p.Thr68Arg)
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.210C>T (p.Asp70=) rs373872223
NM_001199107.2(TBC1D24):c.211G>A (p.Ala71Thr)
NM_001199107.2(TBC1D24):c.213C>T (p.Ala71=) rs778212970
NM_001199107.2(TBC1D24):c.217G>A (p.Val73Met) rs370078844
NM_001199107.2(TBC1D24):c.225C>T (p.Ser75=) rs201220026
NM_001199107.2(TBC1D24):c.226G>A (p.Asp76Asn) rs979223146
NM_001199107.2(TBC1D24):c.22T>C (p.Cys8Arg) rs77585883
NM_001199107.2(TBC1D24):c.231C>T (p.Ile77=) rs375578380
NM_001199107.2(TBC1D24):c.232G>A (p.Val78Met) rs776539630
NM_001199107.2(TBC1D24):c.243C>T (p.Ile81=) rs745405784
NM_001199107.2(TBC1D24):c.244G>A (p.Val82Met)
NM_001199107.2(TBC1D24):c.244G>T (p.Val82Leu) rs747915584
NM_001199107.2(TBC1D24):c.253C>T (p.His85Tyr)
NM_001199107.2(TBC1D24):c.263G>A (p.Ser88Asn)
NM_001199107.2(TBC1D24):c.28G>A (p.Val10Met) rs767293945
NM_001199107.2(TBC1D24):c.297G>A (p.Thr99=) rs767766165
NM_001199107.2(TBC1D24):c.321T>A (p.Asn107Lys) rs1057524192
NM_001199107.2(TBC1D24):c.325C>G (p.Arg109Gly) rs372337277
NM_001199107.2(TBC1D24):c.327C>T (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.333G>A (p.Glu111=) rs749237671
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.368A>G (p.Asn123Ser)
NM_001199107.2(TBC1D24):c.373T>C (p.Phe125Leu) rs1567411503
NM_001199107.2(TBC1D24):c.378C>T (p.Pro126=) rs765624033
NM_001199107.2(TBC1D24):c.381C>A (p.Asp127Glu) rs1376844321
NM_001199107.2(TBC1D24):c.393C>G (p.Cys131Trp)
NM_001199107.2(TBC1D24):c.394C>T (p.Pro132Ser)
NM_001199107.2(TBC1D24):c.397G>A (p.Ala133Thr)
NM_001199107.2(TBC1D24):c.398C>T (p.Ala133Val)
NM_001199107.2(TBC1D24):c.404C>T (p.Pro135Leu) rs1057519630
NM_001199107.2(TBC1D24):c.405G>A (p.Pro135=) rs778663250
NM_001199107.2(TBC1D24):c.409G>A (p.Val137Met)
NM_001199107.2(TBC1D24):c.409G>T (p.Val137Leu)
NM_001199107.2(TBC1D24):c.414G>A (p.Val138=) rs1015174831
NM_001199107.2(TBC1D24):c.418C>G (p.Leu140Val)
NM_001199107.2(TBC1D24):c.431A>G (p.Tyr144Cys) rs1596968109
NM_001199107.2(TBC1D24):c.439G>A (p.Asp147Asn) rs267607103
NM_001199107.2(TBC1D24):c.441C>T (p.Asp147=) rs149371169
NM_001199107.2(TBC1D24):c.447C>T (p.Ala149=) rs755794991
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199107.2(TBC1D24):c.458A>C (p.Glu153Ala) rs1424074905
NM_001199107.2(TBC1D24):c.465C>T (p.Ala155=) rs1596968205
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs) rs796053403
NM_001199107.2(TBC1D24):c.485A>G (p.Asn162Ser) rs772054145
NM_001199107.2(TBC1D24):c.492C>G (p.Pro164=) rs369172908
NM_001199107.2(TBC1D24):c.493G>A (p.Gly165Ser) rs200926225
NM_001199107.2(TBC1D24):c.507C>T (p.Ile169=) rs529104933
NM_001199107.2(TBC1D24):c.519C>T (p.Phe173=) rs763534843
NM_001199107.2(TBC1D24):c.524C>A (p.Ala175Asp)
NM_001199107.2(TBC1D24):c.534G>A (p.Ser178=) rs144714321
NM_001199107.2(TBC1D24):c.546G>A (p.Thr182=) rs182825122
NM_001199107.2(TBC1D24):c.556C>G (p.Leu186Val) rs1555501245
NM_001199107.2(TBC1D24):c.587A>G (p.Lys196Arg) rs758299397
NM_001199107.2(TBC1D24):c.601G>A (p.Val201Met)
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478
NM_001199107.2(TBC1D24):c.622G>A (p.Val208Ile) rs1355375251
NM_001199107.2(TBC1D24):c.630G>A (p.Ala210=) rs776459372
NM_001199107.2(TBC1D24):c.632A>G (p.Asp211Gly) rs1596968508
NM_001199107.2(TBC1D24):c.640C>T (p.Arg214Cys) rs760121083
NM_001199107.2(TBC1D24):c.648G>C (p.Leu216=) rs571126287
NM_001199107.2(TBC1D24):c.655G>A (p.Glu219Lys)
NM_001199107.2(TBC1D24):c.657G>A (p.Glu219=) rs587781187
NM_001199107.2(TBC1D24):c.659T>C (p.Leu220Pro)
NM_001199107.2(TBC1D24):c.663C>T (p.Pro221=) rs148670169
NM_001199107.2(TBC1D24):c.679C>T (p.Arg227Trp) rs748302886
NM_001199107.2(TBC1D24):c.680G>A (p.Arg227Gln)
NM_001199107.2(TBC1D24):c.680G>T (p.Arg227Leu) rs756181906
NM_001199107.2(TBC1D24):c.686T>C (p.Phe229Ser) rs397514713
NM_001199107.2(TBC1D24):c.68G>A (p.Gly23Glu) rs1567410958
NM_001199107.2(TBC1D24):c.690C>T (p.Asp230=) rs749531792
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.725G>A (p.Arg242His) rs199744635
NM_001199107.2(TBC1D24):c.726C>T (p.Arg242=) rs772786813
NM_001199107.2(TBC1D24):c.727G>A (p.Val243Met) rs762660491
NM_001199107.2(TBC1D24):c.731C>A (p.Ala244Glu) rs375873110
NM_001199107.2(TBC1D24):c.759G>A (p.Lys253=) rs190306450
NM_001199107.2(TBC1D24):c.776C>A (p.Pro259Gln) rs779398267
NM_001199107.2(TBC1D24):c.785C>T (p.Ser262Leu) rs201060500
NM_001199107.2(TBC1D24):c.792C>T (p.Ser264=) rs769290045
NM_001199107.2(TBC1D24):c.793G>A (p.Val265Met) rs772768393
NM_001199107.2(TBC1D24):c.807C>G (p.Ile269Met) rs762576413
NM_001199107.2(TBC1D24):c.808C>T (p.Arg270Cys) rs375860324
NM_001199107.2(TBC1D24):c.809G>A (p.Arg270His) rs545689324
NM_001199107.2(TBC1D24):c.817G>A (p.Val273Ile) rs752610561
NM_001199107.2(TBC1D24):c.829G>A (p.Ala277Thr) rs754019727
NM_001199107.2(TBC1D24):c.845C>G (p.Pro282Arg) rs747538224
NM_001199107.2(TBC1D24):c.856C>G (p.Leu286Val)
NM_001199107.2(TBC1D24):c.864A>G (p.Lys288=) rs777237669
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>G (p.Asn307Ser) rs761934676
NM_001199107.2(TBC1D24):c.929C>T (p.Ala310Val)
NM_001199107.2(TBC1D24):c.951C>T (p.Thr317=) rs766745103
NM_001199107.2(TBC1D24):c.965+10C>T rs756687194
NM_001199107.2(TBC1D24):c.969G>A (p.Val323=) rs1054785696
NM_001199107.2(TBC1D24):c.971C>T (p.Ser324Leu)
NM_001199107.2(TBC1D24):c.983+2T>C rs1596969717
NM_001199107.2(TBC1D24):c.983+7C>T rs778459711
NM_001199107.2(TBC1D24):c.983G>T (p.Arg328Met) rs796053404
NM_001199107.2(TBC1D24):c.997T>G (p.Leu333Val)
NM_020705.3(TBC1D24):c.229_240ATCGTGGGCAAG[1] (p.77_80IVGK[1]) rs761918906

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