List of variants reported as pathogenic for Treacher Collins syndrome 1 by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
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.3352C>T (p.Gln1118Ter)	rs1581203344
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)	rs587776582

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