ClinVar Miner

List of variants reported as likely pathogenic for CDKL5 disorder by RettBASE

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
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.2152G>A (p.Val718Met) rs267608653
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.680T>G (p.Leu227Arg) rs267608515

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