ClinVar Miner

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

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001371623.1(TCOF1):c.158G>A (p.Trp53Ter)
NM_001371623.1(TCOF1):c.3711del (p.Ala1238fs)	rs2151060309
NM_001371623.1(TCOF1):c.3754del (p.Gln1252fs)

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