List of variants reported as pathogenic for Rett syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NC_000023.10:g.(153296026_153296261)_(153298009_153357641)del
NC_000023.10:g.(?_153287263)_(153296026_153296261)del
NC_000023.10:g.(?_153287263)_(153298009_153357641)del
NC_000023.10:g.(?_153287263)_(153363189_?)del
NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter)	rs61752372
NM_001110792.2(MECP2):c.1193_1224del (p.Leu398fs)	rs267608585
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)	rs267608327
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)	rs63749748
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)	rs28934907
NM_001110792.2(MECP2):c.414-3C>G	rs267608465
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)	rs28934904
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)	rs61748390
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)	rs61748396
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.746del (p.Gly249fs)	rs61749743
NM_001110792.2(MECP2):c.789dup (p.Gly264fs)	rs61749751
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)	rs61749721
NM_001110792.2(MECP2):c.842del (p.Gly281fs)	rs61750241
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)	rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)	rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)	rs28935468

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