ClinVar Miner

List of variants studied for Early infantile epileptic encephalopathy 2 by Génétique des Maladies du Développement, Hospices Civils de Lyon

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Total variants: 8
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HGVS dbSNP
NM_001037343.1:c.100-?_744+?dup
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_001323289.2(CDKL5):c.135G>C (p.Lys45Asn) rs1602263431
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.2276+1G>A rs1602292181
NM_001323289.2(CDKL5):c.354_361del (p.Leu119fs)
NM_001323289.2(CDKL5):c.394G>T (p.Val132Phe) rs1569213917
NM_001323289.2(CDKL5):c.898_899del (p.Gln300fs) rs1602282699

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