ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 15
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HGVS dbSNP
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.463+5G>T rs886042303
NM_003159.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992

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