List of variants reported as pathogenic for atypical Rett syndrome by Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)	rs267608339	0.00010
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)	rs61752992
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	rs61751444
NM_001323289.2(CDKL5):c.453del (p.Cys152fs)	rs1555949763
NM_001323289.2(CDKL5):c.630_631del (p.Leu210fs)
NM_001323289.2(CDKL5):c.968T>A (p.Leu323Ter)
NM_005249.5(FOXG1):c.1248C>G (p.Tyr416Ter)	rs786204999
NM_005249.5(FOXG1):c.406G>T (p.Glu136Ter)	rs1057520663
NM_005249.5(FOXG1):c.506del (p.Gly169fs)	rs1452295073
NM_005249.5(FOXG1):c.777del (p.Ser260fs)	rs1594383798

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