ClinVar Miner

List of variants in gene CDKL5 reported by Invitae

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Gene type:
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Total variants: 117
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HGVS dbSNP
NC_000023.10:g.(?_18525055)_(18528974_?)dup
NC_000023.10:g.(?_18582577)_(18600090_?)del
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1006C>T (p.Gln336Ter) rs1057518203
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala)
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
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.1246G>T (p.Glu416Ter) rs1555951991
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491
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.1342A>G (p.Met448Val)
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=)
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1600A>G (p.Arg534Gly)
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=)
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=)
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.1731G>A (p.Met577Ile) rs757573258
NM_001323289.2(CDKL5):c.1743T>C (p.His581=)
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.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.192T>G (p.Leu64=) rs145496868
NM_001323289.2(CDKL5):c.1948G>A (p.Gly650Arg)
NM_001323289.2(CDKL5):c.198_199TC[1] (p.Leu67fs) rs1555949011
NM_001323289.2(CDKL5):c.2013C>T (p.Gly671=)
NM_001323289.2(CDKL5):c.2022del (p.Phe675fs) rs1060501860
NM_001323289.2(CDKL5):c.2046+1G>A rs786204976
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_001323289.2(CDKL5):c.2142del (p.Tyr716fs) rs1569220925
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=)
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=)
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr)
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser)
NM_001323289.2(CDKL5):c.2277-7C>T
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=)
NM_001323289.2(CDKL5):c.2326_2327del (p.Lys776fs)
NM_001323289.2(CDKL5):c.2343del (p.Arg781fs) rs62643614
NM_001323289.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_001323289.2(CDKL5):c.2345C>G (p.Ser782Ter)
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg)
NM_001323289.2(CDKL5):c.2444G>T (p.Ser815Ile)
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_001323289.2(CDKL5):c.244del (p.Arg82fs) rs1555949041
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_001323289.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
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.2541G>A (p.Ser847=) rs781774964
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs) rs61753251
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
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.2785C>T (p.Gln929Ter)
NM_001323289.2(CDKL5):c.282+1G>T rs1569213054
NM_001323289.2(CDKL5):c.2821del (p.Tyr941fs)
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=)
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=)
NM_001323289.2(CDKL5):c.350A>G (p.Tyr117Cys) rs1189749755
NM_001323289.2(CDKL5):c.396C>T (p.Val132=)
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg)
NM_001323289.2(CDKL5):c.464-9A>G rs374030184
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.53T>A (p.Val18Asp)
NM_001323289.2(CDKL5):c.554+10C>T
NM_001323289.2(CDKL5):c.555-7T>A
NM_001323289.2(CDKL5):c.583T>G (p.Trp195Gly) rs1569215594
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001323289.2(CDKL5):c.614_617dup (p.Asp206fs) rs1555950465
NM_001323289.2(CDKL5):c.638G>A (p.Gly213Glu) rs1569215629
NM_001323289.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_001323289.2(CDKL5):c.725del (p.Pro242fs) rs1555950494
NM_001323289.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_001323289.2(CDKL5):c.826-2A>G rs1060501859
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=)
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=)
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.950A>G (p.His317Arg) rs756537286
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_001323289.2(CDKL5):c.99+9A>G

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