ClinVar Miner

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

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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001371623.1(TCOF1):c.1019_1022del (p.Glu340fs)
NM_001371623.1(TCOF1):c.109-3del rs2150398853
NM_001371623.1(TCOF1):c.1399del (p.Gln467fs) rs2150706662
NM_001371623.1(TCOF1):c.142del (p.Asp48fs)
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
NM_001371623.1(TCOF1):c.1602dup (p.Ser535fs)
NM_001371623.1(TCOF1):c.1705G>A (p.Glu569Lys) rs764314276
NM_001371623.1(TCOF1):c.1849_1850del (p.Ser617fs)
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs) rs2150732608
NM_001371623.1(TCOF1):c.2142+2T>C
NM_001371623.1(TCOF1):c.2388dup (p.Ala797fs)
NM_001371623.1(TCOF1):c.3046G>A (p.Gly1016Ser) rs1766647259
NM_001371623.1(TCOF1):c.3099del (p.Ala1035fs)
NM_001371623.1(TCOF1):c.3385_3389dup (p.Pro1131fs)
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
NM_001371623.1(TCOF1):c.3679_3697delinsCTCTGG (p.Asp1227fs) rs2151059839
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs) rs2151060309
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)
NM_001371623.1(TCOF1):c.378+1G>A rs1581064385
NM_001371623.1(TCOF1):c.3856C>T (p.Gln1286Ter) rs2151099050
NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs) rs2151100918
NM_001371623.1(TCOF1):c.4027dup (p.Trp1343fs) rs2151101668
NM_001371623.1(TCOF1):c.4243A>T (p.Lys1415Ter)
NM_001371623.1(TCOF1):c.4360delinsAAAAAGACAAAAAA (p.Glu1454fs)
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_001371623.1(TCOF1):c.551del (p.Ala184fs)
NM_001371623.1(TCOF1):c.583C>T (p.Gln195Ter)
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly) rs1758963105

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