ClinVar Miner

List of variants reported as likely pathogenic for Atypical Rett syndrome

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Total variants: 5
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HGVS dbSNP
NM_003159.2(CDKL5):c.211A>G (p.Asn71Asp) rs587783072
NM_003159.2(CDKL5):c.2376+5G>A rs267608657
NM_003159.2(CDKL5):c.380A>G (p.His127Arg) rs267608468
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963

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