List of variants reported as pathogenic for Rett syndrome by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val)	rs61748381	0.00150
NM_001110792.2(MECP2):c.1344_1345del (p.Gln449fs)	rs61753972
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)	rs61748404
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)	rs28934906
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)	rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468

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