ClinVar Miner

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

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Total variants: 37
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HGVS dbSNP
NM_001323289.2(CDKL5):c.1108_1109dup (p.Asn370fs) rs886043742
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_001323289.2(CDKL5):c.215T>C (p.Ile72Thr) rs62641235
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1111del (p.Ala372fs) rs1555951958
NM_003159.2(CDKL5):c.1152C>G (p.Tyr384Ter) rs794727064
NM_003159.2(CDKL5):c.1365_1366insA (p.Gly456fs) rs886044424
NM_003159.2(CDKL5):c.1553del (p.Pro518fs) rs886042899
NM_003159.2(CDKL5):c.1891_1916del (p.Ile631fs) rs794727063
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.212del (p.Asn71fs) rs886043296
NM_003159.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632
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.554+1G>A rs1555950083
NM_003159.2(CDKL5):c.713del (p.Phe238fs) rs1555950486
NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992

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