ClinVar Miner

List of variants studied for Treacher-Collins syndrome 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
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.1359G>A (p.Gly453=) rs145539529
NM_000356.4(TCOF1):c.1367C>T (p.Thr456Ile) rs377521530
NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs) rs587776583
NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs) rs587776583
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.1552G>A (p.Val518Ile) rs75583421
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.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.2052_2053CT[1] (p.Asp684_Ser685insTer) rs1554137531
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
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.3279C>T (p.His1093=) rs116354094
NM_000356.4(TCOF1):c.3297C>T (p.Pro1099=) rs149395927
NM_000356.4(TCOF1):c.3369+64dup rs151344577
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.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.4092_4094GAA[2] (p.Lys1367del) rs574569798
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.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4134dup (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.4140_4142GAA[1] (p.Lys1382_Lys1383del) rs151344581
NM_000356.4(TCOF1):c.4140_4142GAA[2] (p.Lys1383del) rs151344581
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.1217G>A (p.Arg406Gln) rs140204483
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454
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.1552G>A (p.Gly518Arg) rs201537012
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
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.2000G>C (p.Arg667Pro) rs146735293
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.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.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter)
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
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.4087_4089AAG[4] (p.Lys1367del) rs773205979
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.4429A>T (p.Lys1477Ter)
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter)
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.