ClinVar Miner

List of variants in gene CDKL5 reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 5
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039

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