List of variants reported as pathogenic for Treacher Collins syndrome 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001371623.1(TCOF1):c.2722del (p.Arg908fs)	rs2150816737
NM_001371623.1(TCOF1):c.304+5G>C	rs1183902447
NM_001371623.1(TCOF1):c.3047-1G>A	rs2151009927
NM_001371623.1(TCOF1):c.3490C>T (p.Gln1164Ter)	rs2534305480
NM_001371623.1(TCOF1):c.4221dup (p.Ser1408fs)	rs1561540623

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