List of variants reported as pathogenic for mandibulofacial dysostosis by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000503.6(EYA1):c.1319G>A (p.Arg440Gln)	rs121909196
NM_001371623.1(TCOF1):c.1602del (p.Ser535fs)
NM_001371623.1(TCOF1):c.1765_1766dup (p.Gln590fs)
NM_001371623.1(TCOF1):c.2461C>T (p.Gln821Ter)
NM_001371623.1(TCOF1):c.2549_2550del (p.Val850fs)
NM_001371623.1(TCOF1):c.2673del (p.Lys892fs)
NM_001371623.1(TCOF1):c.2745_2750delinsAACC (p.Pro916fs)
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)	rs587776582

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