List of variants reported as likely pathogenic for Mandibulofacial dysostosis-microcephaly syndrome by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_004247.4(EFTUD2):c.1332del (p.Ala445fs)	rs2508767056
NM_004247.4(EFTUD2):c.334dup (p.Thr112fs)	rs2508840210
NM_004247.4(EFTUD2):c.426+1dup	rs2508834497
NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter)	rs2508808119

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