ClinVar Miner

List of variants reported as likely benign for Treacher-Collins syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.1723A>G (p.Ile575Val) rs35918007 0.00074
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001371623.1(TCOF1):c.1535T>C (p.Met512Thr) rs201458471 0.00067
NM_001371623.1(TCOF1):c.1864G>A (p.Glu622Lys) rs144872197 0.00054
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.3538A>T (p.Thr1180Ser) rs144793475 0.00048
NM_001371623.1(TCOF1):c.1502G>A (p.Gly501Glu) rs201581867 0.00046
NM_001371623.1(TCOF1):c.2248A>G (p.Thr750Ala) rs149384321 0.00039
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.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.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.2332C>T (p.Pro778Ser) rs368225177 0.00023
NM_001371623.1(TCOF1):c.1130C>T (p.Pro377Leu) rs189476787 0.00021
NM_001371623.1(TCOF1):c.2515G>A (p.Val839Ile) rs140126499 0.00020
NM_001371623.1(TCOF1):c.4345+10C>T rs376073937 0.00019
NM_001371623.1(TCOF1):c.484G>A (p.Glu162Lys) rs145775767 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.600C>T (p.Ser200=) rs73270841 0.00016
NM_001371623.1(TCOF1):c.1845G>A (p.Ser615=) rs200075508 0.00013
NM_001371623.1(TCOF1):c.3003C>T (p.Ser1001=) rs149702578 0.00013
NM_001371623.1(TCOF1):c.3184-19T>C rs369497315 0.00013
NM_001371623.1(TCOF1):c.3945A>C (p.Ser1315=) rs146509895 0.00013
NM_001371623.1(TCOF1):c.1545G>T (p.Gly515=) rs374664344 0.00012
NM_001371623.1(TCOF1):c.1038A>G (p.Ser346=) rs371156656 0.00011
NM_001371623.1(TCOF1):c.1789G>A (p.Val597Ile) rs147742838 0.00011
NM_001371623.1(TCOF1):c.3546C>T (p.Thr1182=) rs192773733 0.00011
NM_001371623.1(TCOF1):c.2910C>A (p.Gly970=) rs370761304 0.00010
NM_001371623.1(TCOF1):c.1844C>T (p.Ser615Leu) rs373839307 0.00009
NM_001371623.1(TCOF1):c.2395G>T (p.Ala799Ser) rs373946807 0.00009
NM_001371623.1(TCOF1):c.4388A>G (p.Lys1463Arg) rs200645401 0.00009
NM_001371623.1(TCOF1):c.566-10C>T rs750736262 0.00009
NM_001371623.1(TCOF1):c.270G>A (p.Glu90=) rs777057497 0.00008
NM_001371623.1(TCOF1):c.3298-7G>A rs371596319 0.00007
NM_001371623.1(TCOF1):c.1029C>T (p.Ser343=) rs528755887 0.00006
NM_001371623.1(TCOF1):c.1298C>T (p.Ala433Val) rs375265976 0.00006
NM_001371623.1(TCOF1):c.2205G>C (p.Leu735Phe) rs200577796 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.2575C>G (p.Gln859Glu) rs201043592 0.00005
NM_001371623.1(TCOF1):c.2817A>T (p.Ser939=) rs772987244 0.00005
NM_001371623.1(TCOF1):c.3046+20A>G rs377243152 0.00005
NM_001371623.1(TCOF1):c.3603+10A>C rs976170759 0.00005
NM_001371623.1(TCOF1):c.3827G>A (p.Arg1276Gln) rs776562128 0.00005
NM_001371623.1(TCOF1):c.4155G>A (p.Thr1385=) rs373820740 0.00005
NM_001371623.1(TCOF1):c.525G>A (p.Glu175=) rs755679110 0.00005
NM_001371623.1(TCOF1):c.633C>T (p.Asp211=) rs750978663 0.00005
NM_001371623.1(TCOF1):c.639+18C>G rs370965325 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.1059G>A (p.Thr353=) rs764909247 0.00004
NM_001371623.1(TCOF1):c.1322C>T (p.Ala441Val) rs540402926 0.00004
NM_001371623.1(TCOF1):c.2781G>A (p.Gly927=) rs758585070 0.00004
NM_001371623.1(TCOF1):c.1242C>T (p.Ser414=) rs151344569 0.00003
NM_001371623.1(TCOF1):c.1489-17T>C rs763809228 0.00003
NM_001371623.1(TCOF1):c.2133C>T (p.Thr711=) rs369582082 0.00003
NM_001371623.1(TCOF1):c.2479-20A>G rs777568396 0.00003
NM_001371623.1(TCOF1):c.2676G>A (p.Lys892=) rs762901589 0.00003
NM_001371623.1(TCOF1):c.2718C>G (p.Ser906=) rs778410229 0.00003
NM_001371623.1(TCOF1):c.3029C>T (p.Thr1010Ile) rs538401137 0.00003
NM_001371623.1(TCOF1):c.3046+17T>C rs916886768 0.00003
NM_001371623.1(TCOF1):c.345G>A (p.Ala115=) rs573322428 0.00003
NM_001371623.1(TCOF1):c.4338C>T (p.Ser1446=) rs373475686 0.00003
NM_001371623.1(TCOF1):c.1114G>A (p.Gly372Arg) rs759026634 0.00002
NM_001371623.1(TCOF1):c.1122C>T (p.Ala374=) rs774778131 0.00002
NM_001371623.1(TCOF1):c.1166C>T (p.Ala389Val) rs773945106 0.00002
NM_001371623.1(TCOF1):c.1216C>T (p.Arg406Trp) rs760851298 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.2648C>T (p.Thr883Met) rs763108083 0.00002
NM_001371623.1(TCOF1):c.3053G>T (p.Arg1018Ile) rs532465195 0.00002
NM_001371623.1(TCOF1):c.3282C>G (p.Thr1094=) rs758933546 0.00002
NM_001371623.1(TCOF1):c.3298-8C>T rs749025791 0.00002
NM_001371623.1(TCOF1):c.3450C>T (p.Ser1150=) rs554119837 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.1084-18C>G rs753254761 0.00001
NM_001371623.1(TCOF1):c.109-8C>G rs768938359 0.00001
NM_001371623.1(TCOF1):c.1188T>C (p.Pro396=) rs757511240 0.00001
NM_001371623.1(TCOF1):c.1308C>G (p.Val436=) rs1168279343 0.00001
NM_001371623.1(TCOF1):c.1314C>T (p.Ala438=) rs369355223 0.00001
NM_001371623.1(TCOF1):c.1464A>G (p.Ala488=) rs1294464088 0.00001
NM_001371623.1(TCOF1):c.1488+17C>T rs777627300 0.00001
NM_001371623.1(TCOF1):c.1488+3G>A rs370220288 0.00001
NM_001371623.1(TCOF1):c.1489-9G>A rs1424848326 0.00001
NM_001371623.1(TCOF1):c.1569A>G (p.Pro523=) rs1219790675 0.00001
NM_001371623.1(TCOF1):c.1653G>A (p.Glu551=) rs368282712 0.00001
NM_001371623.1(TCOF1):c.1668T>C (p.Ser556=) rs111582424 0.00001
NM_001371623.1(TCOF1):c.1791C>T (p.Val597=) rs139505033 0.00001
NM_001371623.1(TCOF1):c.1894-15T>C rs765212253 0.00001
NM_001371623.1(TCOF1):c.1931G>A (p.Cys644Tyr) rs778283941 0.00001
NM_001371623.1(TCOF1):c.1968C>T (p.Val656=) rs377242921 0.00001
NM_001371623.1(TCOF1):c.1999C>T (p.Arg667Trp) rs867245814 0.00001
NM_001371623.1(TCOF1):c.2016G>A (p.Ala672=) rs372688212 0.00001
NM_001371623.1(TCOF1):c.2039C>T (p.Pro680Leu) rs372088099 0.00001
NM_001371623.1(TCOF1):c.2142+19G>C rs554337979 0.00001
NM_001371623.1(TCOF1):c.216A>G (p.Gln72=) rs777649173 0.00001
NM_001371623.1(TCOF1):c.2249C>T (p.Thr750Ile) rs746966614 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.255G>A (p.Ser85=) rs771777470 0.00001
NM_001371623.1(TCOF1):c.2614G>A (p.Glu872Lys) rs746560886 0.00001
NM_001371623.1(TCOF1):c.2808C>T (p.Ser936=) rs1327048845 0.00001
NM_001371623.1(TCOF1):c.2838G>A (p.Pro946=) rs759472865 0.00001
NM_001371623.1(TCOF1):c.2862G>A (p.Val954=) rs1382166995 0.00001
NM_001371623.1(TCOF1):c.288C>T (p.Ala96=) rs765428099 0.00001
NM_001371623.1(TCOF1):c.294C>T (p.Thr98=) rs752532261 0.00001
NM_001371623.1(TCOF1):c.3009T>C (p.Asp1003=) rs772751108 0.00001
NM_001371623.1(TCOF1):c.305-4G>C rs886563882 0.00001
NM_001371623.1(TCOF1):c.309A>C (p.Pro103=) rs1209030910 0.00001
NM_001371623.1(TCOF1):c.3183+18G>A rs999428106 0.00001
NM_001371623.1(TCOF1):c.3517+12del rs768447525 0.00001
NM_001371623.1(TCOF1):c.3562G>A (p.Ala1188Thr) rs371535526 0.00001
NM_001371623.1(TCOF1):c.3880A>C (p.Ser1294Arg) rs1429947751 0.00001
NM_001371623.1(TCOF1):c.3888C>T (p.Ile1296=) rs2534526220 0.00001
NM_001371623.1(TCOF1):c.3991G>A (p.Val1331Met) rs773901761 0.00001
NM_001371623.1(TCOF1):c.4209G>A (p.Lys1403=) rs2534549289 0.00001
NM_001371623.1(TCOF1):c.4419G>A (p.Pro1473=) rs766361479 0.00001
NM_001371623.1(TCOF1):c.441G>A (p.Thr147=) rs936684562 0.00001
NM_001371623.1(TCOF1):c.4444-19C>T rs764715009 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.946A>G (p.Thr316Ala) rs752618401 0.00001
NM_001371623.1(TCOF1):c.951A>C (p.Pro317=) rs755951077 0.00001
NM_001371623.1(TCOF1):c.1044C>G (p.Asp348Glu)
NM_001371623.1(TCOF1):c.108+11G>T rs2532522107
NM_001371623.1(TCOF1):c.1084-10G>A
NM_001371623.1(TCOF1):c.1084-19_1084-18del rs1458015672
NM_001371623.1(TCOF1):c.1113C>G (p.Val371=) rs751252576
NM_001371623.1(TCOF1):c.1114G>C (p.Gly372Arg) rs759026634
NM_001371623.1(TCOF1):c.1128C>A (p.Ala376=) rs149825269
NM_001371623.1(TCOF1):c.1230G>A (p.Ser410=)
NM_001371623.1(TCOF1):c.1248A>G (p.Glu416=) rs1359960095
NM_001371623.1(TCOF1):c.1278+10_1278+11del rs2533405942
NM_001371623.1(TCOF1):c.1279-10C>T rs773894584
NM_001371623.1(TCOF1):c.129C>G (p.Pro43=) rs753008654
NM_001371623.1(TCOF1):c.1320G>A (p.Ser440=) rs780772500
NM_001371623.1(TCOF1):c.1371G>A (p.Arg457=)
NM_001371623.1(TCOF1):c.1386A>G (p.Ala462=)
NM_001371623.1(TCOF1):c.1389C>T (p.Ala463=)
NM_001371623.1(TCOF1):c.1538G>A (p.Gly513Asp) rs150143293
NM_001371623.1(TCOF1):c.1605A>T (p.Ser535=) rs1241952312
NM_001371623.1(TCOF1):c.1629G>A (p.Glu543=) rs138254692
NM_001371623.1(TCOF1):c.164+17A>G rs370398714
NM_001371623.1(TCOF1):c.165-19A>G rs1361908470
NM_001371623.1(TCOF1):c.1705-4C>T rs2533476095
NM_001371623.1(TCOF1):c.1748G>C (p.Ser583Thr)
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.1833C>T (p.Ser611=)
NM_001371623.1(TCOF1):c.1893+8C>T rs1763682229
NM_001371623.1(TCOF1):c.1929C>T (p.Ala643=)
NM_001371623.1(TCOF1):c.1938G>A (p.Lys646=)
NM_001371623.1(TCOF1):c.2000G>C (p.Arg667Pro) rs146735293
NM_001371623.1(TCOF1):c.2175A>G (p.Lys725=)
NM_001371623.1(TCOF1):c.2187G>A (p.Val729=) rs1417002525
NM_001371623.1(TCOF1):c.2187G>T (p.Val729=) rs1417002525
NM_001371623.1(TCOF1):c.2340+11G>A rs2533538788
NM_001371623.1(TCOF1):c.2340+13A>T
NM_001371623.1(TCOF1):c.2341-16C>T
NM_001371623.1(TCOF1):c.2616G>A (p.Glu872=)
NM_001371623.1(TCOF1):c.2633AGG[2] (p.Glu880del) rs749229511
NM_001371623.1(TCOF1):c.2643G>A (p.Ala881=)
NM_001371623.1(TCOF1):c.2649G>A (p.Thr883=)
NM_001371623.1(TCOF1):c.264G>A (p.Ser88=) rs760564202
NM_001371623.1(TCOF1):c.2655T>A (p.Ala885=)
NM_001371623.1(TCOF1):c.2658+14A>T rs1451144003
NM_001371623.1(TCOF1):c.2659-10C>G
NM_001371623.1(TCOF1):c.2659-18_2659-8del rs1581140872
NM_001371623.1(TCOF1):c.2775G>A (p.Gln925=)
NM_001371623.1(TCOF1):c.2924C>T (p.Pro975Leu)
NM_001371623.1(TCOF1):c.305-15_305-14del rs751737569
NM_001371623.1(TCOF1):c.3084C>T (p.His1028=) rs2151010757
NM_001371623.1(TCOF1):c.3366C>G (p.Thr1122=) rs1767546736
NM_001371623.1(TCOF1):c.3513G>A (p.Thr1171=)
NM_001371623.1(TCOF1):c.3517+20G>A rs2534308165
NM_001371623.1(TCOF1):c.3525C>T (p.Pro1175=) rs2151048544
NM_001371623.1(TCOF1):c.3528C>A (p.Thr1176=)
NM_001371623.1(TCOF1):c.3530_3531delinsGT (p.Pro1177Arg) rs2534340540
NM_001371623.1(TCOF1):c.3531C>G (p.Pro1177=) rs149395927
NM_001371623.1(TCOF1):c.3531C>T (p.Pro1177=) rs149395927
NM_001371623.1(TCOF1):c.3604-13T>C rs1767816849
NM_001371623.1(TCOF1):c.3654G>A (p.Gln1218=) rs2534377377
NM_001371623.1(TCOF1):c.3711C>T (p.Ala1237=)
NM_001371623.1(TCOF1):c.3750C>T (p.Pro1250=) rs1171799911
NM_001371623.1(TCOF1):c.3858A>G (p.Gln1286=) rs2534524321
NM_001371623.1(TCOF1):c.3870G>A (p.Leu1290=)
NM_001371623.1(TCOF1):c.3873G>T (p.Ala1291=) rs375500651
NM_001371623.1(TCOF1):c.3951G>A (p.Val1317=) rs1768530821
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4125G>A (p.Glu1375=) rs2534542807
NM_001371623.1(TCOF1):c.4230C>T (p.Gly1410=) rs1487242526
NM_001371623.1(TCOF1):c.4314G>A (p.Lys1438=) rs537931287
NM_001371623.1(TCOF1):c.4345+11G>C rs370407398
NM_001371623.1(TCOF1):c.4346-12_4346-8del rs749963400
NM_001371623.1(TCOF1):c.4346-13T>C
NM_001371623.1(TCOF1):c.4380G>A (p.Lys1460=) rs3208540
NM_001371623.1(TCOF1):c.4443+12C>T rs2534647935
NM_001371623.1(TCOF1):c.444G>A (p.Val148=) rs981078028
NM_001371623.1(TCOF1):c.457T>G (p.Ser153Ala) rs1161730410
NM_001371623.1(TCOF1):c.639+14A>G
NM_001371623.1(TCOF1):c.639+6T>A
NM_001371623.1(TCOF1):c.810A>C (p.Ser270=)
NM_001371623.1(TCOF1):c.827_844del (p.Gly276_Glu281del) rs528897827
NM_001371623.1(TCOF1):c.984C>T (p.Ser328=) rs2150684723

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