ClinVar Miner

List of variants in gene TCOF1 reported as likely benign

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_001371623.1(TCOF1):c.305-254T>C rs72805937 0.02274
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_001371623.1(TCOF1):c.870+302C>A rs17713128 0.01722
NM_001371623.1(TCOF1):c.378+248G>A rs115466053 0.01417
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_001371623.1(TCOF1):c.305-52A>G rs41287124 0.01012
NM_001371623.1(TCOF1):c.566-130T>C rs56782150 0.00997
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001371623.1(TCOF1):c.*22+250A>G rs114990396 0.00831
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001371623.1(TCOF1):c.305-291C>T rs144667249 0.00686
NM_001371623.1(TCOF1):c.3184-201C>T rs73270857 0.00667
NM_001371623.1(TCOF1):c.378+73A>C rs115486857 0.00665
NM_001371623.1(TCOF1):c.378+74G>T rs114652052 0.00665
NM_001371623.1(TCOF1):c.2860-171A>C rs12519483 0.00624
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.1704+77C>T rs148419846 0.00550
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.4443+120G>C rs111906987 0.00526
NM_001371623.1(TCOF1):c.*22+204T>C rs116752001 0.00456
NM_001371623.1(TCOF1):c.379-179T>G rs113341923 0.00431
NM_001371623.1(TCOF1):c.305-256G>A rs148699933 0.00415
NM_001371623.1(TCOF1):c.378+39T>G rs200732051 0.00374
NM_001371623.1(TCOF1):c.2658+30T>A rs115015020 0.00328
NM_001371623.1(TCOF1):c.164+206G>A rs144770182 0.00314
NM_001371623.1(TCOF1):c.379-184A>G rs142032188 0.00309
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.305-36C>A rs139669820 0.00274
NM_001371623.1(TCOF1):c.165-115G>A rs3733922 0.00268
NM_001371623.1(TCOF1):c.827G>A (p.Gly276Glu) rs182776703 0.00265
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_001371623.1(TCOF1):c.2859+3389G>T rs151344575 0.00196
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.109-28T>C rs144149485 0.00168
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) rs141250614 0.00132
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) rs143519179 0.00129
NM_001371623.1(TCOF1):c.378+16T>C rs184898865 0.00125
NM_001371623.1(TCOF1):c.2859+26A>G rs151344574 0.00120
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007 0.00074
NM_001371623.1(TCOF1):c.3604-14A>G rs373075669 0.00073
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr) rs201458471 0.00072
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys) rs144872197 0.00057
NM_001371623.1(TCOF1):c.3538A>T (p.Thr1180Ser) rs144793475 0.00053
NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met) rs181203524 0.00053
NM_001371623.1(TCOF1):c.1390G>A (p.Ala464Thr) rs150956690 0.00051
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg) rs201537012 0.00049
NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu) rs201581867 0.00048
NM_001371623.1(TCOF1):c.2731G>T (p.Ala911Ser) rs557426457 0.00041
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321 0.00039
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001371623.1(TCOF1):c.4345+16T>C rs200509548 0.00036
NM_001371623.1(TCOF1):c.1217G>A (p.Arg406Gln) rs140204483 0.00034
NM_001371623.1(TCOF1):c.3241G>A (p.Ala1081Thr) rs112144548 0.00033
NM_001371623.1(TCOF1):c.2000G>A (p.Arg667Gln) rs146735293 0.00032
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001371623.1(TCOF1):c.866G>A (p.Ser289Asn) rs188279654 0.00029
NM_001371623.1(TCOF1):c.1547C>T (p.Pro516Leu) rs138645438 0.00028
NM_001371623.1(TCOF1):c.1361C>T (p.Ala454Val) rs375227693 0.00026
NM_001371623.1(TCOF1):c.2332C>T (p.Pro778Ser) rs368225177 0.00026
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_001371623.1(TCOF1):c.3191A>G (p.Lys1064Arg) rs149117118 0.00025
NM_001371623.1(TCOF1):c.961G>A (p.Gly321Arg) rs146307766 0.00024
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu) rs189476787 0.00021
NM_001371623.1(TCOF1):c.484G>A (p.Glu162Lys) rs145775767 0.00021
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile) rs140126499 0.00019
NM_001371623.1(TCOF1):c.326A>G (p.Asn109Ser) rs142477153 0.00019
NM_001371623.1(TCOF1):c.3493G>C (p.Gly1165Arg) rs141095369 0.00018
NM_001371623.1(TCOF1):c.2766G>A (p.Ser922=) rs369562565 0.00016
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508 0.00014
NM_001371623.1(TCOF1):c.188G>A (p.Arg63Gln) rs371609378 0.00014
NM_001371623.1(TCOF1):c.2672G>A (p.Gly891Glu) rs376431510 0.00014
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile) rs538401137 0.00014
NM_001371623.1(TCOF1):c.3945A>C (p.Ser1315=) rs146509895 0.00014
NM_001371623.1(TCOF1):c.600C>T (p.Ser200=) rs73270841 0.00014
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344 0.00012
NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val) rs540402926 0.00011
NM_001371623.1(TCOF1):c.1789G>A (p.Val597Ile) rs147742838 0.00011
NM_001371623.1(TCOF1):c.3785G>T (p.Gly1262Val) rs375337164 0.00011
NM_001371623.1(TCOF1):c.4070C>T (p.Ala1357Val) rs373129508 0.00009
NM_001371623.1(TCOF1):c.270G>A (p.Glu90=) rs777057497 0.00008
NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg) rs200645401 0.00008
NM_001371623.1(TCOF1):c.3298-7G>A rs371596319 0.00007
NM_001371623.1(TCOF1):c.640-7G>T rs766782407 0.00007
NM_001371623.1(TCOF1):c.1029C>T (p.Ser343=) rs528755887 0.00006
NM_001371623.1(TCOF1):c.1854G>A (p.Ala618=) rs151344570 0.00006
NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe) rs200577796 0.00006
NM_001371623.1(TCOF1):c.3046+20A>G rs377243152 0.00006
NM_001371623.1(TCOF1):c.4419G>A (p.Pro1473=) rs766361479 0.00006
NM_001371623.1(TCOF1):c.531C>T (p.Gly177=) rs138616767 0.00006
NM_001371623.1(TCOF1):c.639+9C>T rs368113675 0.00006
NM_001371623.1(TCOF1):c.1124C>T (p.Ser375Leu) rs756584594 0.00005
NM_001371623.1(TCOF1):c.1961C>T (p.Ala654Val) rs201843484 0.00005
NM_001371623.1(TCOF1):c.2817A>T (p.Ser939=) rs772987244 0.00005
NM_001371623.1(TCOF1):c.337C>A (p.Leu113Met) rs151324548 0.00005
NM_001371623.1(TCOF1):c.3562G>A (p.Ala1188Thr) rs371535526 0.00005
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln) rs776562128 0.00005
NM_001371623.1(TCOF1):c.525G>A (p.Glu175=) rs755679110 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371623.1(TCOF1):c.633C>T (p.Asp211=) rs750978663 0.00005
NM_001371623.1(TCOF1):c.651A>G (p.Ser217=) rs370179351 0.00005
NM_001371623.1(TCOF1):c.676T>C (p.Ser226Pro) rs201919311 0.00005
NM_001371623.1(TCOF1):c.187C>T (p.Arg63Trp) rs367964727 0.00004
NM_001371623.1(TCOF1):c.2142+22C>T rs151344572 0.00004
NM_001371623.1(TCOF1):c.2575C>G (p.Gln859Glu) rs201043592 0.00004
NM_001371623.1(TCOF1):c.3603+10A>C rs976170759 0.00004
NM_001371623.1(TCOF1):c.4155G>A (p.Thr1385=) rs373820740 0.00004
NM_001371623.1(TCOF1):c.1242C>T (p.Ser414=) rs151344569 0.00003
NM_001371623.1(TCOF1):c.2181C>A (p.Ala727=) rs746764771 0.00003
NM_001371623.1(TCOF1):c.2718C>G (p.Ser906=) rs778410229 0.00003
NM_001371623.1(TCOF1):c.566-9G>A rs563129948 0.00003
NM_001371623.1(TCOF1):c.1059G>A (p.Thr353=) rs764909247 0.00002
NM_001371623.1(TCOF1):c.1563C>T (p.Ala521=) rs755295207 0.00002
NM_001371623.1(TCOF1):c.1780C>T (p.Pro594Ser) rs769250780 0.00002
NM_001371623.1(TCOF1):c.1923C>T (p.Thr641=) rs781033363 0.00002
NM_001371623.1(TCOF1):c.1953T>C (p.Thr651=) rs151344571 0.00002
NM_001371623.1(TCOF1):c.2648C>T (p.Thr883Met) rs763108083 0.00002
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195 0.00002
NM_001371623.1(TCOF1):c.3603+64dup rs151344577 0.00002
NM_001371623.1(TCOF1):c.3882C>T (p.Ser1294=) rs1470939619 0.00002
NM_001371623.1(TCOF1):c.4023G>A (p.Lys1341=) rs199890846 0.00002
NM_001371623.1(TCOF1):c.1086G>A (p.Ala362=) rs151344568 0.00001
NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val) rs773945106 0.00001
NM_001371623.1(TCOF1):c.1308C>G (p.Val436=) rs1168279343 0.00001
NM_001371623.1(TCOF1):c.164+17A>G rs370398714 0.00001
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.1968C>T (p.Val656=) rs377242921 0.00001
NM_001371623.1(TCOF1):c.1979G>A (p.Arg660Gln) rs766391641 0.00001
NM_001371623.1(TCOF1):c.2039C>T (p.Pro680Leu) rs372088099 0.00001
NM_001371623.1(TCOF1):c.216A>G (p.Gln72=) rs777649173 0.00001
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=) rs1286333047 0.00001
NM_001371623.1(TCOF1):c.252C>T (p.Thr84=) rs772865214 0.00001
NM_001371623.1(TCOF1):c.3009T>C (p.Asp1003=) rs772751108 0.00001
NM_001371623.1(TCOF1):c.309A>C (p.Pro103=) rs1209030910 0.00001
NM_001371623.1(TCOF1):c.3517+12del rs768447525 0.00001
NM_001371623.1(TCOF1):c.3518-3C>T rs543072968 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.4107G>A (p.Gly1369=) rs762095989 0.00001
NM_001371623.1(TCOF1):c.4443+106G>T rs151344582 0.00001
NM_001371623.1(TCOF1):c.449A>G (p.Asn150Ser) rs141805606 0.00001
NM_001371623.1(TCOF1):c.723C>A (p.Ala241=) rs763497947 0.00001
NM_001371623.1(TCOF1):c.724C>T (p.Pro242Ser) rs766981672 0.00001
NM_001371623.1(TCOF1):c.735G>C (p.Val245=) rs767978317 0.00001
NM_001371623.1(TCOF1):c.871-17C>G rs748999144 0.00001
NM_001371623.1(TCOF1):c.951A>C (p.Pro317=) rs755951077 0.00001
NM_001371623.1(TCOF1):c.1038A>G (p.Ser346=)
NM_001371623.1(TCOF1):c.108+11G>T
NM_001371623.1(TCOF1):c.1084-18C>G
NM_001371623.1(TCOF1):c.1084-19_1084-18del
NM_001371623.1(TCOF1):c.1113C>G (p.Val371=)
NM_001371623.1(TCOF1):c.1114G>C (p.Gly372Arg) rs759026634
NM_001371623.1(TCOF1):c.1122C>T (p.Ala374=)
NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=) rs149825269
NM_001371623.1(TCOF1):c.1188T>C (p.Pro396=)
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp)
NM_001371623.1(TCOF1):c.1248A>G (p.Glu416=) rs1359960095
NM_001371623.1(TCOF1):c.1269G>C (p.Ala423=) rs72492454
NM_001371623.1(TCOF1):c.1278+10_1278+11del
NM_001371623.1(TCOF1):c.1279-10C>T
NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val)
NM_001371623.1(TCOF1):c.129C>G (p.Pro43=)
NM_001371623.1(TCOF1):c.1314C>T (p.Ala438=)
NM_001371623.1(TCOF1):c.1320G>A (p.Ser440=)
NM_001371623.1(TCOF1):c.1353T>G (p.Ala451=)
NM_001371623.1(TCOF1):c.1413G>A (p.Gln471=)
NM_001371623.1(TCOF1):c.1464A>G (p.Ala488=)
NM_001371623.1(TCOF1):c.1488+17C>T
NM_001371623.1(TCOF1):c.1488+3G>A
NM_001371623.1(TCOF1):c.1488+9G>A rs767451977
NM_001371623.1(TCOF1):c.1489-17T>C
NM_001371623.1(TCOF1):c.1489-9G>A rs1424848326
NM_001371623.1(TCOF1):c.1538G>A (p.Gly513Asp)
NM_001371623.1(TCOF1):c.1549T>C (p.Leu517=) rs757939964
NM_001371623.1(TCOF1):c.1564G>A (p.Gly522Ser)
NM_001371623.1(TCOF1):c.1569A>G (p.Pro523=)
NM_001371623.1(TCOF1):c.1600C>G (p.Pro534Ala) rs1581115339
NM_001371623.1(TCOF1):c.1605A>T (p.Ser535=)
NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=)
NM_001371623.1(TCOF1):c.165-190G>T rs57623039
NM_001371623.1(TCOF1):c.165-19A>G
NM_001371623.1(TCOF1):c.1653G>A (p.Glu551=)
NM_001371623.1(TCOF1):c.1668T>C (p.Ser556=) rs111582424
NM_001371623.1(TCOF1):c.1704+68C>T rs41287126
NM_001371623.1(TCOF1):c.1705-4C>T
NM_001371623.1(TCOF1):c.1776A>C (p.Ala592=)
NM_001371623.1(TCOF1):c.1791C>T (p.Val597=)
NM_001371623.1(TCOF1):c.1804G>A (p.Glu602Lys) rs1763649950
NM_001371623.1(TCOF1):c.1830C>T (p.Ser610=) rs2150726683
NM_001371623.1(TCOF1):c.1844C>T (p.Ser615Leu)
NM_001371623.1(TCOF1):c.1893+8C>T
NM_001371623.1(TCOF1):c.1894-15T>C
NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr)
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2016G>A (p.Ala672=)
NM_001371623.1(TCOF1):c.207G>A (p.Ala69=)
NM_001371623.1(TCOF1):c.2133C>T (p.Thr711=)
NM_001371623.1(TCOF1):c.2142+19G>C
NM_001371623.1(TCOF1):c.2187G>A (p.Val729=)
NM_001371623.1(TCOF1):c.2187G>T (p.Val729=)
NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile)
NM_001371623.1(TCOF1):c.2340+11G>A
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807
NM_001371623.1(TCOF1):c.2479-20A>G
NM_001371623.1(TCOF1):c.255G>A (p.Ser85=)
NM_001371623.1(TCOF1):c.2633AGG[2] (p.Glu880del) rs749229511
NM_001371623.1(TCOF1):c.264G>A (p.Ser88=) rs760564202
NM_001371623.1(TCOF1):c.2658+14A>T
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.2676G>A (p.Lys892=)
NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=)
NM_001371623.1(TCOF1):c.2808C>T (p.Ser936=)
NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=)
NM_001371623.1(TCOF1):c.2859+6A>G
NM_001371623.1(TCOF1):c.2862G>A (p.Val954=)
NM_001371623.1(TCOF1):c.288C>T (p.Ala96=)
NM_001371623.1(TCOF1):c.2910C>A (p.Gly970=)
NM_001371623.1(TCOF1):c.294C>T (p.Thr98=)
NM_001371623.1(TCOF1):c.2952G>T (p.Pro984=)
NM_001371623.1(TCOF1):c.3003C>T (p.Ser1001=)
NM_001371623.1(TCOF1):c.3046+17T>C
NM_001371623.1(TCOF1):c.305-15_305-14del rs751737569
NM_001371623.1(TCOF1):c.305-4G>C
NM_001371623.1(TCOF1):c.3084C>T (p.His1028=) rs2151010757
NM_001371623.1(TCOF1):c.3092T>C (p.Ile1031Thr)
NM_001371623.1(TCOF1):c.3183+18G>A
NM_001371623.1(TCOF1):c.3184-19T>C
NM_001371623.1(TCOF1):c.3240C>T (p.Leu1080=)
NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=)
NM_001371623.1(TCOF1):c.3298-8C>T
NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122=)
NM_001371623.1(TCOF1):c.3375C>T (p.Leu1125=)
NM_001371623.1(TCOF1):c.3398T>G (p.Val1133Gly)
NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=)
NM_001371623.1(TCOF1):c.345G>A (p.Ala115=)
NM_001371623.1(TCOF1):c.3517+20G>A
NM_001371623.1(TCOF1):c.3525C>T (p.Pro1175=) rs2151048544
NM_001371623.1(TCOF1):c.3530_3531delinsGT (p.Pro1177Arg)
NM_001371623.1(TCOF1):c.3531C>G (p.Pro1177=)
NM_001371623.1(TCOF1):c.3531C>T (p.Pro1177=) rs149395927
NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=)
NM_001371623.1(TCOF1):c.3604-13T>C
NM_001371623.1(TCOF1):c.3654G>A (p.Gln1218=)
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=) rs1171799911
NM_001371623.1(TCOF1):c.381A>G (p.Ala127=)
NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286=)
NM_001371623.1(TCOF1):c.3873G>A (p.Ala1291=)
NM_001371623.1(TCOF1):c.3873G>T (p.Ala1291=) rs375500651
NM_001371623.1(TCOF1):c.3888C>T (p.Ile1296=)
NM_001371623.1(TCOF1):c.3951G>A (p.Val1317=)
NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met)
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4125G>A (p.Glu1375=)
NM_001371623.1(TCOF1):c.4154C>T (p.Thr1385Met)
NM_001371623.1(TCOF1):c.4209G>A (p.Lys1403=)
NM_001371623.1(TCOF1):c.4230C>T (p.Gly1410=) rs1487242526
NM_001371623.1(TCOF1):c.4254A>G (p.Pro1418=)
NM_001371623.1(TCOF1):c.4298_4299delinsGA (p.Asp1433Gly) rs151344580
NM_001371623.1(TCOF1):c.4314G>A (p.Lys1438=) rs537931287
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4338C>T (p.Ser1446=)
NM_001371623.1(TCOF1):c.4345+10C>T
NM_001371623.1(TCOF1):c.4345+11G>C
NM_001371623.1(TCOF1):c.4380G>A (p.Lys1460=)
NM_001371623.1(TCOF1):c.4393G>C (p.Ala1465Pro) rs146405751
NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=)
NM_001371623.1(TCOF1):c.441G>A (p.Thr147=)
NM_001371623.1(TCOF1):c.4443+12C>T
NM_001371623.1(TCOF1):c.444G>A (p.Val148=)
NM_001371623.1(TCOF1):c.445G>A (p.Ala149Thr)
NM_001371623.1(TCOF1):c.457T>G (p.Ser153Ala)
NM_001371623.1(TCOF1):c.566-10C>T
NM_001371623.1(TCOF1):c.639+18C>G
NM_001371623.1(TCOF1):c.714G>A (p.Ala238=)
NM_001371623.1(TCOF1):c.771G>A (p.Leu257=)
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371623.1(TCOF1):c.870+293C>T rs149867525
NM_001371623.1(TCOF1):c.930C>G (p.Thr310=)
NM_001371623.1(TCOF1):c.946A>G (p.Thr316Ala)
NM_001371623.1(TCOF1):c.984C>T (p.Ser328=) rs2150684723

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