ClinVar Miner

List of variants reported as pathogenic for Treacher Collins syndrome 1

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Total variants: 112
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.3337_3338insCTCT (p.Gln1113fs) rs1429628044 0.00001
NC_000005.10:g.(?_150387882)_(150399068_?)del
NC_000005.9:g.(?_149775825)_(149778631_?)del
NM_001371623.1(TCOF1):c.1016C>G (p.Ser339Ter)
NM_001371623.1(TCOF1):c.1021_1022del (p.Ser341fs) rs1763212034
NM_001371623.1(TCOF1):c.109-1del rs2150398890
NM_001371623.1(TCOF1):c.1173del (p.Lys393fs) rs2150695587
NM_001371623.1(TCOF1):c.1204C>T (p.Gln402Ter) rs1763331046
NM_001371623.1(TCOF1):c.1278+1G>A rs886041506
NM_001371623.1(TCOF1):c.1303del (p.Gln435fs)
NM_001371623.1(TCOF1):c.1328_1350del (p.Ala443fs) rs2150704850
NM_001371623.1(TCOF1):c.1330_1340del (p.Lys444fs) rs1763415490
NM_001371623.1(TCOF1):c.1358dup (p.Ala454fs) rs1554136123
NM_001371623.1(TCOF1):c.1377_1378del (p.Gly460fs) rs1562347303
NM_001371623.1(TCOF1):c.1389del (p.Ala464fs) rs1763437825
NM_001371623.1(TCOF1):c.1425_1426del (p.Arg476fs) rs2150707502
NM_001371623.1(TCOF1):c.1448_1451del (p.Asp483fs) rs1064794474
NM_001371623.1(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_001371623.1(TCOF1):c.1504_1505insT (p.Lys502fs) rs2150713720
NM_001371623.1(TCOF1):c.1560dup (p.Ala521fs) rs1581114957
NM_001371623.1(TCOF1):c.1578del (p.Lys528fs) rs2150715791
NM_001371623.1(TCOF1):c.1622G>A (p.Trp541Ter) rs2150716827
NM_001371623.1(TCOF1):c.1634C>G (p.Ser545Ter)
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.163C>T (p.Gln55Ter) rs2150399547
NM_001371623.1(TCOF1):c.1646del (p.Ser549fs)
NM_001371623.1(TCOF1):c.1659dup (p.Asp554fs) rs1763559019
NM_001371623.1(TCOF1):c.1824_1825delinsTT (p.Glu609Ter) rs2150726644
NM_001371623.1(TCOF1):c.1990C>T (p.Gln664Ter) rs896979080
NM_001371623.1(TCOF1):c.1999dup (p.Arg667fs) rs2150734334
NM_001371623.1(TCOF1):c.1A>T (p.Met1Leu)
NM_001371623.1(TCOF1):c.2039del (p.Pro680fs)
NM_001371623.1(TCOF1):c.2072_2073del (p.Glu691fs)
NM_001371623.1(TCOF1):c.2103_2106del (p.Ser701fs) rs2150736647
NM_001371623.1(TCOF1):c.2112_2116del (p.Glu704fs)
NM_001371623.1(TCOF1):c.2142+1del rs1763794839
NM_001371623.1(TCOF1):c.2146_2147del (p.Lys716fs) rs1554137419
NM_001371623.1(TCOF1):c.2257C>T (p.Gln753Ter) rs1490116413
NM_001371623.1(TCOF1):c.2285_2286del (p.Asp761_Ser762insTer) rs1554137531
NM_001371623.1(TCOF1):c.2313_2316del (p.Ser771fs)
NM_001371623.1(TCOF1):c.2347dup (p.Thr783fs)
NM_001371623.1(TCOF1):c.2353del (p.Ser784_Val785insTer) rs1581136492
NM_001371623.1(TCOF1):c.2384del (p.Ala795fs) rs1764409337
NM_001371623.1(TCOF1):c.2464_2467dup (p.Ser823Ter) rs1764427494
NM_001371623.1(TCOF1):c.2478+5G>T
NM_001371623.1(TCOF1):c.2553del (p.Lys852fs)
NM_001371623.1(TCOF1):c.25G>T (p.Glu9Ter) rs1758946466
NM_001371623.1(TCOF1):c.2656C>T (p.Gln886Ter) rs786205575
NM_001371623.1(TCOF1):c.2689A>T (p.Arg897Ter)
NM_001371623.1(TCOF1):c.2709del (p.Lys904fs) rs2150816107
NM_001371623.1(TCOF1):c.2722del (p.Arg908fs) rs2150816737
NM_001371623.1(TCOF1):c.2795C>G (p.Ser932Ter) rs1554138811
NM_001371623.1(TCOF1):c.2796_2797del (p.Gly933fs) rs1554138819
NM_001371623.1(TCOF1):c.2819_2822del (p.Asp940fs) rs2150820128
NM_001371623.1(TCOF1):c.2830dup (p.Glu944fs)
NM_001371623.1(TCOF1):c.2935C>T (p.Gln979Ter)
NM_001371623.1(TCOF1):c.2962C>T (p.Arg988Ter) rs119470017
NM_001371623.1(TCOF1):c.304+1del
NM_001371623.1(TCOF1):c.304+5G>C
NM_001371623.1(TCOF1):c.3047-1G>A rs2151009927
NM_001371623.1(TCOF1):c.3091del (p.Arg1030_Ile1031insTer) rs1767064064
NM_001371623.1(TCOF1):c.3107dup (p.Ser1036fs) rs587777314
NM_001371623.1(TCOF1):c.3133dup (p.Glu1045fs) rs1554078461
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)
NM_001371623.1(TCOF1):c.3352C>T (p.Gln1118Ter) rs1581203344
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)
NM_001371623.1(TCOF1):c.3496dup (p.Ala1166fs) rs35868965
NM_001371623.1(TCOF1):c.3608_3609del (p.Leu1203fs)
NM_001371623.1(TCOF1):c.3625del (p.Thr1209fs) rs1581210464
NM_001371623.1(TCOF1):c.3629del (p.Pro1210fs)
NM_001371623.1(TCOF1):c.3674dup (p.Leu1226fs)
NM_001371623.1(TCOF1):c.3698_3702del (p.Ser1233fs) rs2151060146
NM_001371623.1(TCOF1):c.376_378+15del rs587776584
NM_001371623.1(TCOF1):c.3784+1G>C rs1767850450
NM_001371623.1(TCOF1):c.3791_3792del (p.Lys1264fs) rs1581223107
NM_001371623.1(TCOF1):c.3856del (p.Gln1286fs)
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs) rs797046037
NM_001371623.1(TCOF1):c.3889dup (p.Thr1297fs)
NM_001371623.1(TCOF1):c.390_391del (p.Lys131fs)
NM_001371623.1(TCOF1):c.3912del (p.Trp1305fs)
NM_001371623.1(TCOF1):c.3918_3942del (p.Leu1307fs)
NM_001371623.1(TCOF1):c.4029G>A (p.Trp1343Ter)
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs) rs1581224630
NM_001371623.1(TCOF1):c.4080del (p.Arg1361fs) rs2151102857
NM_001371623.1(TCOF1):c.4132_4133del (p.Val1378fs) rs1554080589
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) rs1768581035
NM_001371623.1(TCOF1):c.4210_4214del (p.Lys1404fs) rs2151105953
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs) rs1561540623
NM_001371623.1(TCOF1):c.422dup (p.His141fs) rs587776580
NM_001371623.1(TCOF1):c.4342_4343del (p.Lys1448fs) rs2151108281
NM_001371623.1(TCOF1):c.4345+2T>C rs2151108410
NM_001371623.1(TCOF1):c.4358_4359del (p.Lys1453fs) rs1554081108
NM_001371623.1(TCOF1):c.4360_4363del (p.Glu1454fs) rs1554081112
NM_001371623.1(TCOF1):c.4364_4368del (p.Lys1455fs) rs587776585
NM_001371623.1(TCOF1):c.4368del (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs) rs587776585
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs) rs587776582
NM_001371623.1(TCOF1):c.4409_4410del (p.Asp1469_Ser1470insTer) rs1554081168
NM_001371623.1(TCOF1):c.4429A>T (p.Lys1477Ter) rs1769042136
NM_001371623.1(TCOF1):c.462del (p.Lys155fs) rs2150555861
NM_001371623.1(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_001371623.1(TCOF1):c.50A>G (p.His17Arg) rs1057521108
NM_001371623.1(TCOF1):c.520G>T (p.Glu174Ter) rs1761930554
NM_001371623.1(TCOF1):c.523G>T (p.Glu175Ter) rs1195908562
NM_001371623.1(TCOF1):c.618_619del (p.Ser206_Ser207insTer) rs2150570748
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs) rs1581075356
NM_001371623.1(TCOF1):c.645del (p.Lys215fs) rs2150623353
NM_001371623.1(TCOF1):c.862C>T (p.Arg288Ter) rs748805008
NM_001371623.1(TCOF1):c.985C>T (p.Gln329Ter) rs119470016
NM_001371623.1(TCOF1):c.999_1000insT (p.Lys334Ter)

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