List of variants reported as likely pathogenic for Treacher Collins syndrome 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000005.10:g.(?_150396282)_(150399070_?)del
NC_000005.10:g.(?_150399002)_(150399068_?)del
NM_001371623.1(TCOF1):c.109-3del	rs2150398853
NM_001371623.1(TCOF1):c.2142+2T>C
NM_001371623.1(TCOF1):c.378+1G>A	rs1581064385
NM_001371623.1(TCOF1):c.89T>G (p.Val30Gly)	rs1758963105

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