List of variants studied for Treacher Collins syndrome 1 by Division of Human Genetics, National Health Laboratory Service/University of the Witwatersrand

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)	rs2532678254
NM_001371623.1(TCOF1):c.3183G>C (p.Gln1061His)	rs2534215438
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs)	rs2151060309
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)	rs2534381580
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)	rs587776582

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