ClinVar Miner

List of variants reported as likely benign for Early infantile epileptic encephalopathy 2

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Total variants: 7
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HGVS dbSNP
NM_001323289.2(CDKL5):c.100-7C>T rs752279222
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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