ClinVar Miner

List of variants in gene CDKL5 reported as uncertain significance for not provided

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Gene type:
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Total variants: 93
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843 0.00006
NM_001323289.2(CDKL5):c.1019G>A (p.Arg340Lys) rs780119476 0.00005
NM_001323289.2(CDKL5):c.1060C>T (p.Pro354Ser) rs1064794591 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2265A>T (p.Ala755=) rs727503846 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.282+19A>G rs781452978 0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.2277-4T>C rs1064794369 0.00002
NM_001323289.2(CDKL5):c.2520C>T (p.Arg840=) rs1037569177 0.00002
NM_001323289.2(CDKL5):c.2572C>T (p.Arg858Cys) rs773760466 0.00002
NM_001323289.2(CDKL5):c.2714G>A (p.Gly905Asp) rs1475195158 0.00002
NM_001323289.2(CDKL5):c.844C>G (p.Pro282Ala) rs1926077779 0.00002
NM_001323289.2(CDKL5):c.1051G>A (p.Val351Ile) rs587783150 0.00001
NM_001323289.2(CDKL5):c.1094G>A (p.Ser365Asn) rs1279388510 0.00001
NM_001323289.2(CDKL5):c.1196A>C (p.Asn399Thr) rs267608611 0.00001
NM_001323289.2(CDKL5):c.13A>G (p.Asn5Asp) rs767844474 0.00001
NM_001323289.2(CDKL5):c.2069A>G (p.His690Arg) rs945311782 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.556G>A (p.Ala186Thr) rs765304446 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 0.00001
GRCh37/hg19 Xp22.13(chrX:18452033-18465282)x1
NM_001323289.2(CDKL5):c.1102A>G (p.Asn368Asp)
NM_001323289.2(CDKL5):c.1118G>C (p.Gly373Ala)
NM_001323289.2(CDKL5):c.126_128del (p.Lys43del) rs2147132248
NM_001323289.2(CDKL5):c.1288G>A (p.Gly430Arg)
NM_001323289.2(CDKL5):c.1300C>T (p.Leu434Phe)
NM_001323289.2(CDKL5):c.133A>G (p.Lys45Glu) rs2147132256
NM_001323289.2(CDKL5):c.1406A>C (p.Tyr469Ser)
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.146-11T>G rs2147139512
NM_001323289.2(CDKL5):c.1463G>A (p.Ser488Asn) rs1602286432
NM_001323289.2(CDKL5):c.1500C>A (p.Asn500Lys) rs587783152
NM_001323289.2(CDKL5):c.1535G>A (p.Ser512Asn) rs1602286533
NM_001323289.2(CDKL5):c.1577C>T (p.Ser526Phe)
NM_001323289.2(CDKL5):c.1745C>T (p.Ser582Phe) rs1378912528
NM_001323289.2(CDKL5):c.178G>A (p.Glu60Lys) rs1925262394
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1832A>G (p.His611Arg)
NM_001323289.2(CDKL5):c.1850G>A (p.Arg617His)
NM_001323289.2(CDKL5):c.1850G>T (p.Arg617Leu) rs2147161251
NM_001323289.2(CDKL5):c.1856A>G (p.Lys619Arg) rs1926304236
NM_001323289.2(CDKL5):c.1888A>C (p.Ser630Arg)
NM_001323289.2(CDKL5):c.1895G>A (p.Gly632Glu)
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=) rs1602289218
NM_001323289.2(CDKL5):c.2151A>G (p.Arg717=) rs886043453
NM_001323289.2(CDKL5):c.2153-2A>G
NM_001323289.2(CDKL5):c.2165G>A (p.Arg722His) rs2147167525
NM_001323289.2(CDKL5):c.2236G>A (p.Gly746Arg) rs1926619731
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
NM_001323289.2(CDKL5):c.2375C>G (p.Thr792Arg)
NM_001323289.2(CDKL5):c.2377-1178T>C
NM_001323289.2(CDKL5):c.239G>A (p.Arg80His) rs776025230
NM_001323289.2(CDKL5):c.248G>T (p.Gly83Val) rs587783402
NM_001323289.2(CDKL5):c.2518C>T (p.Arg840Cys)
NM_001323289.2(CDKL5):c.2683C>T (p.Pro895Ser)
NM_001323289.2(CDKL5):c.2696C>A (p.Pro899Gln) rs2147179076
NM_001323289.2(CDKL5):c.272A>G (p.Tyr91Cys) rs1064797360
NM_001323289.2(CDKL5):c.2782G>C (p.Glu928Gln)
NM_001323289.2(CDKL5):c.2787G>T (p.Gln929His)
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs) rs1602300837
NM_001323289.2(CDKL5):c.2822A>G (p.Tyr941Cys) rs1291397963
NM_001323289.2(CDKL5):c.29T>C (p.Met10Thr)
NM_001323289.2(CDKL5):c.322C>G (p.Pro108Ala)
NM_001323289.2(CDKL5):c.370C>T (p.His124Tyr)
NM_001323289.2(CDKL5):c.392T>C (p.Ile131Thr) rs2147142715
NM_001323289.2(CDKL5):c.403G>A (p.Asp135Asn) rs1064794919
NM_001323289.2(CDKL5):c.404A>T (p.Asp135Val) rs1569214316
NM_001323289.2(CDKL5):c.436A>C (p.Asn146His) rs2147144038
NM_001323289.2(CDKL5):c.458A>T (p.Asp153Val) rs786204985
NM_001323289.2(CDKL5):c.463+5G>T rs886042303
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.496G>A (p.Ala166Thr) rs2147145524
NM_001323289.2(CDKL5):c.541G>A (p.Glu181Lys) rs794727912
NM_001323289.2(CDKL5):c.703A>G (p.Met235Val) rs1925703356
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.800A>G (p.Asn267Ser) rs794726990
NM_001323289.2(CDKL5):c.803G>A (p.Ser268Asn) rs1925959502
NM_001323289.2(CDKL5):c.825+5G>A rs1555951149
NM_001323289.2(CDKL5):c.855A>T (p.Arg285Ser) rs267608532
NM_001323289.2(CDKL5):c.863C>G (p.Thr288Arg)
NM_001323289.2(CDKL5):c.893A>G (p.Gln298Arg)

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