List of variants reported as pathogenic by The Raphael Recanati Genetics Institute, Rabin Medical Center

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000346.4(SOX9):c.491A>C (p.Gln164Pro)	rs1567910689
NM_000381.4(MID1):c.1917del (p.Thr640fs)	rs1569265497
NM_001110792.2(MECP2):c.941C>T (p.Pro314Leu)	rs61749723
NM_001378452.1(ITPR1):c.1252-2A>T	rs1559638068
NM_014491.4(FOXP2):c.1426C>T (p.Arg476Ter)	rs1178491246

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