List of variants reported as pathogenic for Schaaf-Yang syndrome by Department Of Pediatrics And Neonatology, Nagoya City University Graduate School Of Medical Sciences

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_019066.5(MAGEL2):c.1761G>A (p.Trp587Ter)	rs1566784441
NM_019066.5(MAGEL2):c.1762C>T (p.Gln588Ter)	rs866419580
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)	rs797044883
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)	rs770374710

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