ClinVar Miner

List of variants reported as likely pathogenic for Early infantile epileptic encephalopathy 2 by Mendelics

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Total variants: 4
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NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys) rs1602269367
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro) rs587783087
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001323289.2(CDKL5):c.825+1dup rs1602280455

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