List of variants reported as uncertain significance for atypical Rett syndrome by ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel

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Total variants: 24

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.838C>T (p.Arg280Trp)	rs61750239	0.00004
NM_001110792.2(MECP2):c.604C>T (p.Arg202Cys)	rs587783137	0.00002
NM_001110792.2(MECP2):c.289C>T (p.Arg97Cys)	rs1064797047	0.00001
NM_001110792.2(MECP2):c.1165_1234del (p.Lys389fs)	rs1557135353
NM_001110792.2(MECP2):c.1181_1207del (p.Leu394_Pro402del)	rs587783094
NM_001110792.2(MECP2):c.1184_1195del (p.Leu395_Leu398del)	rs782767712
NM_001110792.2(MECP2):c.1197_1436del (p.Pro400_Pro479del)	rs1557134946
NM_001110792.2(MECP2):c.1244dup (p.Pro415_Glu416insTer)	rs781843758
NM_001110792.2(MECP2):c.1273T>C (p.Cys425Arg)	rs797045692
NM_001110792.2(MECP2):c.1286A>T (p.Lys429Met)	rs61753968
NM_001110792.2(MECP2):c.1448G>C (p.Arg483Thr)	rs1057520310
NM_001110792.2(MECP2):c.1483G>T (p.Glu495Ter)	rs587777421
NM_001110792.2(MECP2):c.331A>C (p.Thr111Pro)	rs2065984609
NM_001110792.2(MECP2):c.379C>T (p.Arg127Cys)	rs267608388
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)	rs61748427
NM_001110792.2(MECP2):c.6CGC[4] (p.Ala7_Ala8del)	rs398123566
NM_001110792.2(MECP2):c.715C>G (p.Gln239Glu)	rs61749737
NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)	rs1557136251
NM_005249.5(FOXG1):c.141CCA[10] (p.His55_His57dup)	rs587783630
NM_005249.5(FOXG1):c.315GCC[4] (p.Pro112dup)	rs1319234983
NM_005249.5(FOXG1):c.503G>T (p.Gly168Val)	rs148157138
NM_005249.5(FOXG1):c.681C>G (p.Asn227Lys)	rs786205012
NM_005249.5(FOXG1):c.699G>T (p.Leu233=)	rs2138661396
NM_005249.5(FOXG1):c.953A>T (p.His318Leu)	rs2138661790

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