ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance

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Total variants: 104
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HGVS dbSNP
GRCh37/hg19 Xp22.13(chrX:18452033-18465282)x1
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NM_001323289.2(CDKL5):c.-189C>T rs786204994
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala)
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611
NM_001323289.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_001323289.2(CDKL5):c.1266C>A (p.Asp422Glu) rs762708691
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474
NM_001323289.2(CDKL5):c.1400A>C (p.His467Pro) rs267608631
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1456G>A (p.Ala486Thr) rs867535910
NM_001323289.2(CDKL5):c.1463G>A (p.Ser488Asn)
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.1535G>A (p.Ser512Asn)
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1591A>G (p.Thr531Ala) rs778464010
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly)
NM_001323289.2(CDKL5):c.1678A>G (p.Thr560Ala) rs587783400
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154
NM_001323289.2(CDKL5):c.1891A>G (p.Ile631Val) rs1569219817
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.1922G>T (p.Ser641Ile)
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg)
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=)
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr)
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser)
NM_001323289.2(CDKL5):c.2277-4T>C rs1064794369
NM_001323289.2(CDKL5):c.2378T>C (p.Val793Ala) rs62643617
NM_001323289.2(CDKL5):c.2384A>C (p.Asn795Thr) rs863225067
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile)
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_001323289.2(CDKL5):c.2496+19A>G rs797045444
NM_001323289.2(CDKL5):c.2502G>T (p.Gln834His) rs1334119558
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694
NM_001323289.2(CDKL5):c.2682_2683insGGAA (p.Pro895fs) rs1569225454
NM_001323289.2(CDKL5):c.26T>C (p.Val9Ala) rs1569197962
NM_001323289.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.2842C>T (p.Arg948Ter) rs1555955296
NM_001323289.2(CDKL5):c.2876C>G (p.Ala959Gly)
NM_001323289.2(CDKL5):c.310C>A (p.Pro104Thr) rs1569213881
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.378C>G (p.Cys126Trp) rs1569213910
NM_001323289.2(CDKL5):c.403G>A (p.Asp135Asn)
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.409A>G (p.Lys137Glu) rs1569214324
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
NM_001323289.2(CDKL5):c.463+5G>T rs886042303
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)
NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_001323289.2(CDKL5):c.611T>G (p.Leu204Arg)
NM_001323289.2(CDKL5):c.65-4A>G rs777490768
NM_001323289.2(CDKL5):c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) rs869312851
NM_001323289.2(CDKL5):c.743G>T (p.Arg248Leu) rs1064795857
NM_001323289.2(CDKL5):c.781A>G (p.Arg261Gly) rs1555951145
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_001323289.2(CDKL5):c.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.818T>C (p.Leu273Pro) rs1569217205
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.872G>A (p.Cys291Tyr) rs267606714
NM_001323289.2(CDKL5):c.904C>T (p.Leu302Phe) rs267608547
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671
NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu) rs1569218064
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.969G>A (p.Leu323=) rs587783407
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_001323289.2(CDKL5):c.99+29T>G rs267608422
NM_001323289.2(CDKL5):c.99+9A>G
NM_003159.2(CDKL5):c.-440G>T rs777401314

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