List of variants reported as likely pathogenic by RettBASE

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)	rs28934908
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val)	rs179363901
NM_001323289.2(CDKL5):c.191T>C (p.Leu64Pro)	rs267608435
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)	rs267608437
NM_001323289.2(CDKL5):c.211A>G (p.Asn71Asp)	rs587783072
NM_001323289.2(CDKL5):c.214_216del (p.Ile72del)	rs786204960
NM_001323289.2(CDKL5):c.2152G>A (p.Val718Met)	rs267608653
NM_001323289.2(CDKL5):c.2376+5G>A	rs267608657
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg)	rs267608468
NM_001323289.2(CDKL5):c.473G>C (p.Arg158Pro)	rs757402424
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)	rs267608493
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)	rs267608501
NM_001323289.2(CDKL5):c.58G>C (p.Gly20Arg)	rs267608418
NM_001323289.2(CDKL5):c.59G>A (p.Gly20Asp)	rs786204962
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro)	rs786204963
NM_001323289.2(CDKL5):c.680T>G (p.Leu227Arg)	rs267608515
NM_003159.2(CDKL5):c.-253_-163+?del

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