ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance

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Total variants: 86
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HGVS dbSNP
NC_000023.11:g.(?_18506935)_(18510854_?)dup
NM_003159.2(CDKL5):c.-189C>T rs786204994
NM_003159.2(CDKL5):c.-440G>T rs777401314
NM_003159.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_003159.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_003159.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_003159.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_003159.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_003159.2(CDKL5):c.1116T>A (p.Ala372=)
NM_003159.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_003159.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_003159.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_003159.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_003159.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_003159.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_003159.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_003159.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_003159.2(CDKL5):c.1579C>T (p.Pro527Ser)
NM_003159.2(CDKL5):c.1591A>G (p.Thr531Ala) rs778464010
NM_003159.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_003159.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_003159.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_003159.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_003159.2(CDKL5):c.1891A>G (p.Ile631Val)
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.1945-5T>C rs1064796245
NM_003159.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
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.2215C>T (p.Leu739=) rs747554139
NM_003159.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_003159.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_003159.2(CDKL5):c.2277-4T>C rs1064794369
NM_003159.2(CDKL5):c.2378T>C (p.Val793Ala) rs62643617
NM_003159.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_003159.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_003159.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2496+19A>G rs797045444
NM_003159.2(CDKL5):c.2502G>T (p.Gln834His)
NM_003159.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_003159.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_003159.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_003159.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_003159.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_003159.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_003159.2(CDKL5):c.2682_2683insGGAA (p.Pro895Glyfs)
NM_003159.2(CDKL5):c.26T>C (p.Val9Ala)
NM_003159.2(CDKL5):c.2713+129C>T rs1555955296
NM_003159.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_003159.2(CDKL5):c.283-13A>G rs587783404
NM_003159.2(CDKL5):c.310C>A (p.Pro104Thr)
NM_003159.2(CDKL5):c.378C>G (p.Cys126Trp)
NM_003159.2(CDKL5):c.404A>T (p.Asp135Val)
NM_003159.2(CDKL5):c.409A>G (p.Lys137Glu)
NM_003159.2(CDKL5):c.463+5G>T rs886042303
NM_003159.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_003159.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_003159.2(CDKL5):c.65-4A>G rs777490768
NM_003159.2(CDKL5):c.679_691delCTAGGACCACTTCinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_003159.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_003159.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_003159.2(CDKL5):c.818T>C (p.Leu273Pro)
NM_003159.2(CDKL5):c.825+5G>A rs1555951149
NM_003159.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_003159.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_003159.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671
NM_003159.2(CDKL5):c.934A>G (p.Lys312Glu)
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_003159.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_003159.2(CDKL5):c.99+29T>G rs267608422

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