ClinVar Miner

List of variants in gene TCOF1 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
ClinVar version:
Total variants: 197
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HGVS dbSNP
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NC_000005.9:g.(?_149776191_149778631del
NM_000356.4(TCOF1):c.1011C>T (p.Ser337=) rs151344569
NM_000356.4(TCOF1):c.1047+1G>A rs886041506
NM_000356.4(TCOF1):c.1047+60G>C rs143713714
NM_000356.4(TCOF1):c.1050G>A (p.Ala350=) rs113299143
NM_000356.4(TCOF1):c.1069C>T (p.Pro357Ser) rs143519179
NM_000356.4(TCOF1):c.108+62_108+68del rs151344564
NM_000356.4(TCOF1):c.109-28T>C rs144149485
NM_000356.4(TCOF1):c.1127dup (p.Ala377fs) rs1554136123
NM_000356.4(TCOF1):c.1146_1147del (p.Gly383fs) rs1562347303
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1217_1220del (p.Asp406fs) rs1064794474
NM_000356.4(TCOF1):c.122C>T (p.Ala41Val) rs56180593
NM_000356.4(TCOF1):c.1347C>T (p.Pro449=) rs2071238
NM_000356.4(TCOF1):c.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000356.4(TCOF1):c.1440T>C (p.Asp480=) rs142758482
NM_000356.4(TCOF1):c.1474G>A (p.Glu492Lys) rs764314276
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.1530G>T (p.Gly510=) rs7701163
NM_000356.4(TCOF1):c.1552G>A (p.Val518Ile) rs75583421
NM_000356.4(TCOF1):c.1611A>G (p.Ser537=) rs2071239
NM_000356.4(TCOF1):c.1623G>A (p.Ala541=) rs151344570
NM_000356.4(TCOF1):c.162A>G (p.Gln54=) rs73270831
NM_000356.4(TCOF1):c.1722T>C (p.Thr574=) rs151344571
NM_000356.4(TCOF1):c.1759C>T (p.Gln587Ter) rs896979080
NM_000356.4(TCOF1):c.1762G>C (p.Ala588Pro) rs2071240
NM_000356.4(TCOF1):c.1769G>A (p.Arg590Gln) rs146735293
NM_000356.4(TCOF1):c.1857T>G (p.Ser619Arg) rs140334121
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.1863A>G (p.Glu621=) rs34796297
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.1911+22C>T rs151344572
NM_000356.4(TCOF1):c.1915_1916del (p.Lys639fs) rs1554137419
NM_000356.4(TCOF1):c.2014C>T (p.Pro672Ser) rs73270846
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2429T>C (p.Val810Ala) rs7713638
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2534C>T (p.Ser845Leu) rs114689020
NM_000356.4(TCOF1):c.2535G>A (p.Ser845=) rs369562565
NM_000356.4(TCOF1):c.2564C>G (p.Ser855Ter) rs1554138811
NM_000356.4(TCOF1):c.2565_2566del (p.Gly856fs) rs1554138819
NM_000356.4(TCOF1):c.2611G>T (p.Ala871Ser) rs181102251
NM_000356.4(TCOF1):c.2628+26A>G rs151344574
NM_000356.4(TCOF1):c.2628+3303G>A rs112447402
NM_000356.4(TCOF1):c.2628+3389G>T rs151344575
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2739G>A (p.Ser913=) rs370130791
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.2902dup (p.Glu968fs) rs1554078461
NM_000356.4(TCOF1):c.295G>A (p.Ala99Thr) rs112332762
NM_000356.4(TCOF1):c.305-52A>G rs41287124
NM_000356.4(TCOF1):c.3108G>A (p.Gln1036=) rs147074393
NM_000356.4(TCOF1):c.3195C>T (p.Ser1065=) rs138291748
NM_000356.4(TCOF1):c.3262G>C (p.Gly1088Arg) rs141095369
NM_000356.4(TCOF1):c.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3296C>G (p.Pro1099Arg) rs1136103
NM_000356.4(TCOF1):c.3297C>T (p.Pro1099=) rs149395927
NM_000356.4(TCOF1):c.3369+64dup rs151344577
NM_000356.4(TCOF1):c.3370-3C>T rs11743855
NM_000356.4(TCOF1):c.3389T>A (p.Met1130Lys) rs139081024
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3478G>A (p.Ala1160Thr) rs137960641
NM_000356.4(TCOF1):c.3550+8A>G rs151344578
NM_000356.4(TCOF1):c.3557_3558del (p.Lys1186fs) rs1581223107
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.3711A>C (p.Ser1237=) rs146509895
NM_000356.4(TCOF1):c.3739dup (p.Glu1247fs) rs1554080460
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.3773A>G (p.Lys1258Arg) rs55980697
NM_000356.4(TCOF1):c.378+1G>A rs1581064385
NM_000356.4(TCOF1):c.3789G>A (p.Lys1263=) rs199890846
NM_000356.4(TCOF1):c.3819G>A (p.Ser1273=) rs114169102
NM_000356.4(TCOF1):c.3865A>C (p.Lys1289Gln) rs201234047
NM_000356.4(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_000356.4(TCOF1):c.3938C>T (p.Ala1313Val) rs15251
NM_000356.4(TCOF1):c.3987dup (p.Ser1330fs) rs1561540623
NM_000356.4(TCOF1):c.4061G>C (p.Gly1354Ala) rs45491898
NM_000356.4(TCOF1):c.4064_4065delinsGA (p.Asp1355Gly) rs151344580
NM_000356.4(TCOF1):c.4124_4125del (p.Lys1375fs) rs1554081108
NM_000356.4(TCOF1):c.4126_4129del (p.Glu1376fs) rs1554081112
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.4130_4134del (p.Lys1377fs) rs587776585
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4154A>G (p.Lys1385Arg) rs200645401
NM_000356.4(TCOF1):c.4175_4176del (p.Asp1391_Ser1392insTer) rs1554081168
NM_000356.4(TCOF1):c.4184C>T (p.Pro1395Leu) rs148367422
NM_000356.4(TCOF1):c.4209+106G>T rs151344582
NM_000356.4(TCOF1):c.4209+108C>A rs111365835
NM_000356.4(TCOF1):c.4224G>A (p.Glu1408=) rs116268092
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.503C>T (p.Thr168Met) rs181203524
NM_000356.4(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_000356.4(TCOF1):c.534C>T (p.Ser178=) rs141250614
NM_000356.4(TCOF1):c.579G>A (p.Ala193=) rs142965998
NM_000356.4(TCOF1):c.640-1946C>T rs748805008
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_000356.4(TCOF1):c.640-1981_640-1964del rs528897827
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016
NM_000356.4(TCOF1):c.768G>A (p.Gly256=) rs55918703
NM_000356.4(TCOF1):c.797G>A (p.Ser266Asn) rs144327167
NM_000356.4(TCOF1):c.852+39G>A rs56113366
NM_000356.4(TCOF1):c.855G>A (p.Ala285=) rs151344568
NM_000356.4(TCOF1):c.889G>T (p.Ala297Ser) rs112039991
NM_000356.4(TCOF1):c.902C>T (p.Ala301Val) rs75181211
NM_000356.4(TCOF1):c.998C>T (p.Ser333Leu) rs114326915
NM_001135243.1(TCOF1):c.-59G>A rs151344563
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs)
NM_001371623.1(TCOF1):c.109-3del
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu)
NM_001371623.1(TCOF1):c.117C>A (p.Phe39Leu)
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter)
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs)
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs)
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs)
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs)
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs)
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr)
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=)
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs)
NM_001371623.1(TCOF1):c.1637_1640del (p.Glu546fs) rs587776583
NM_001371623.1(TCOF1):c.1639_1640del (p.Ser547fs) rs587776583
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs)
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508
NM_001371623.1(TCOF1):c.1866_1873del (p.Glu622fs)
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs)
NM_001371623.1(TCOF1):c.2142+1del
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) rs1581136492
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs)
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs)
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile)
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser)
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
NM_001371623.1(TCOF1):c.325A>G (p.Asn109Asp)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
NM_001371623.1(TCOF1):c.3593C>T (p.Ala1198Val)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs)
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=)
NM_001371623.1(TCOF1):c.3784+1G>C
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln)
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val)
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter)
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs)
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4374GAA[1] (p.Lys1460_Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter)
NM_001371623.1(TCOF1):c.481G>T (p.Ala161Ser)
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
NM_001371623.1(TCOF1):c.600_620del (p.Glu201_Ser207del)
NM_001371623.1(TCOF1):c.630_631insCTG (p.Asp211_Val212insLeu) rs1581075276
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)

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