ClinVar Miner

List of variants in gene CDKL5 studied for not specified

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Gene type:
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Total variants: 110
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HGVS dbSNP
NM_001323289.2(CDKL5):c.-163+10C>T rs1057520478
NM_001323289.2(CDKL5):c.-163+13G>A rs913326290
NM_001323289.2(CDKL5):c.-174G>A rs1555928752
NM_001323289.2(CDKL5):c.-18A>G rs1483246379
NM_001323289.2(CDKL5):c.-5T>A rs79219416
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039
NM_001323289.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1296_1298del (p.Lys432_Tyr433delinsAsn) rs1555951997
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
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.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_001323289.2(CDKL5):c.145+6T>G rs753819165
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.146-19A>G rs1057523365
NM_001323289.2(CDKL5):c.1471G>A (p.Ala491Thr) rs1555952046
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1591A>G (p.Thr531Ala) rs778464010
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645
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.1892T>C (p.Ile631Thr) rs144878564
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436
NM_001323289.2(CDKL5):c.2046+3A>G rs751000827
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632
NM_001323289.2(CDKL5):c.216T>A (p.Ile72=) rs267608439
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.2276+9T>G rs1555953298
NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) rs786204954
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484
NM_001323289.2(CDKL5):c.2377-31T>C rs267608658
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.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.2465G>A (p.Arg822His) rs376429571
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_001323289.2(CDKL5):c.2496+19A>G rs797045444
NM_001323289.2(CDKL5):c.2496+3G>A rs1057523074
NM_001323289.2(CDKL5):c.2497-10T>G rs1057522389
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247
NM_001323289.2(CDKL5):c.2733G>A (p.Trp911Ter) rs1555955268
NM_001323289.2(CDKL5):c.283-12T>C rs188879559
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.283-43G>A rs267608448
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955
NM_001323289.2(CDKL5):c.403+27A>G rs786204959
NM_001323289.2(CDKL5):c.403+49_403+53del rs267608473
NM_001323289.2(CDKL5):c.404-16del rs748656624
NM_001323289.2(CDKL5):c.404-53T>C rs786204956
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164
NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) rs786204957
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+22T>C rs267608478
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.470C>T (p.Ala157Val) rs863225066
NM_001323289.2(CDKL5):c.480G>A (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.554+11G>A rs267608498
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.64+26G>A rs374664378
NM_001323289.2(CDKL5):c.65-13C>T rs532222548
NM_001323289.2(CDKL5):c.65-4A>G rs777490768
NM_001323289.2(CDKL5):c.681A>G (p.Leu227=) rs1057522628
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057
NM_001323289.2(CDKL5):c.846A>G (p.Pro282=) rs773523708
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_001323289.2(CDKL5):c.967T>C (p.Leu323=) rs527360143
NM_001323289.2(CDKL5):c.978-23T>C rs267608555
NM_001323289.2(CDKL5):c.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.99+29T>G rs267608422
NM_001323289.2(CDKL5):c.99+34A>G rs137874941
NM_003159.2(CDKL5):c.-265C>G rs587783397
NM_003159.2(CDKL5):c.-391G>T rs191864898
NM_003159.2(CDKL5):c.-426C>G rs184407021
NM_003159.2(CDKL5):c.145+4_145+5AT(11_13)
NM_003159.2(CDKL5):c.145+4_145+5AT[13]
NM_003159.2(CDKL5):c.145+4_145+5AT[15]

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