List of variants reported as pathogenic for complex neurodevelopmental disorder by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000834.5(GRIN2B):c.1556G>A (p.Arg519Gln)
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp)	rs190111194
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)	rs398124204
NM_005249.5(FOXG1):c.506del (p.Gly169fs)	rs1452295073
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)	rs587784365

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