ClinVar Miner

List of variants in gene TCOF1 reported as benign for Treacher Collins syndrome 1

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Gene type:
ClinVar version:
Total variants: 79
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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.1083+39G>A rs56113366 0.05067
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.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_001371623.1(TCOF1):c.1133C>T (p.Ala378Val) rs75181211 0.01172
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.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg) rs55980697 0.00865
NM_001371623.1(TCOF1):c.1278+60G>C rs143713714 0.00827
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_001371623.1(TCOF1):c.2859+3303G>A rs112447402 0.00742
NM_001371623.1(TCOF1):c.3510C>T (p.His1170=) rs116354094 0.00617
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.4443+108C>A rs111365835 0.00548
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_001371623.1(TCOF1):c.1488+16G>A rs115532058 0.00275
NM_001371623.1(TCOF1):c.3594G>A (p.Ala1198=) rs148626720 0.00272
NM_001371623.1(TCOF1):c.109-13T>C rs147327313 0.00267
NM_001371623.1(TCOF1):c.827G>A (p.Gly276Glu) rs182776703 0.00265
NM_001371623.1(TCOF1):c.3047-20C>T rs150694681 0.00264
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.3438T>G (p.Ser1146Arg) rs200424706 0.00213
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.1269G>A (p.Ala423=) rs72492454 0.00193
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg) rs140334121 0.00149
NM_001371623.1(TCOF1):c.1671T>C (p.Asp557=) rs142758482 0.00135
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046 0.00135
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.1278+14G>A rs375809363 0.00125
NM_001371623.1(TCOF1):c.378+16T>C rs184898865 0.00125
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001371623.1(TCOF1):c.3168G>A (p.Glu1056=) rs78239421 0.00111
NM_001371623.1(TCOF1):c.999G>A (p.Gly333=) rs55918703 0.00104
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.3604-14A>G rs373075669 0.00073
NM_001371623.1(TCOF1):c.1590G>A (p.Gly530=) rs145539529 0.00071
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met) rs181203524 0.00053
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244 0.00042
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001371623.1(TCOF1):c.2970G>A (p.Ser990=) rs370130791 0.00029
NM_001371623.1(TCOF1):c.4284G>T (p.Thr1428=) rs148889187 0.00013
NM_001371623.1(TCOF1):c.3537G>A (p.Arg1179=) rs200202637 0.00010
NM_001371623.1(TCOF1):c.1299C>A (p.Ala433=) rs200762971 0.00009
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180 0.00009
NM_001371623.1(TCOF1):c.1083+12G>A rs571858502 0.00006
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371623.1(TCOF1):c.1704+16G>A
NM_001371623.1(TCOF1):c.1704+9C>T
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.3046+7G>A
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4345+11G>A rs370407398
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=)
NM_001371623.1(TCOF1):c.839AGG[2] (p.Glu282del) rs1160403859
NM_001371623.1(TCOF1):c.930C>G (p.Thr310=)

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