List of variants reported as pathogenic for syndromic intellectual disability by Service de Génétique Moléculaire, Hôpital Robert Debré

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001347721.2(DYRK1A):c.1372C>T (p.Arg458Ter)	rs797044520
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)	rs724159949
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)	rs724159948
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)	rs587783360
NM_003070.5(SMARCA2):c.2563C>G (p.Arg855Gly)	rs281875207
NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	rs886041125
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	rs398123009
NM_152564.5(VPS13B):c.4832T>A (p.Ile1611Asn)

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