ClinVar Miner

List of variants reported as likely pathogenic by RettBASE

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Total variants: 17
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HGVS dbSNP
NM_001110792.2(MECP2):c.5C>T (p.Ala2Val) rs179363901
NM_001323289.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_003159.2(CDKL5):c.-253_-163+?del
NM_003159.2(CDKL5):c.191T>C (p.Leu64Pro) rs267608435
NM_003159.2(CDKL5):c.199C>T (p.Leu67Phe) rs267608437
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.214_216del (p.Ile72del) rs786204960
NM_003159.2(CDKL5):c.2152G>A (p.Val718Met) rs267608653
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.473G>C (p.Arg158Pro) rs757402424
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.58G>C (p.Gly20Arg) rs267608418
NM_003159.2(CDKL5):c.59G>A (p.Gly20Asp) rs786204962
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_003159.2(CDKL5):c.680T>G (p.Leu227Arg) rs267608515
NM_004992.3(MECP2):c.419C>T (p.Ala140Val) rs28934908

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