ClinVar Miner

List of variants reported as uncertain significance for Early infantile epileptic encephalopathy 2

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Total variants: 21
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_001323289.2(CDKL5):c.178G>C (p.Glu60Gln)
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.422T>C (p.Leu141Pro)
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr) rs1555940536
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.2767C>T (p.Arg923Cys) rs267608664
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403

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