ClinVar Miner

List of variants studied for Early infantile epileptic encephalopathy 2 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 11
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NM_001323289.2(CDKL5):c.1094dup (p.Ser365fs)
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1756_1759del (p.Ser586fs)
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
NM_001323289.2(CDKL5):c.2578C>T (p.Gln860Ter)
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.601del (p.Glu203fs)
NM_001323289.2(CDKL5):c.64G>A (p.Gly22Arg)
NM_001323289.2(CDKL5):c.670C>T (p.Gln224Ter)
NM_001323289.2(CDKL5):c.71A>G (p.Tyr24Cys)

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