ClinVar Miner

List of variants in gene CDKL5 reported as likely benign

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Total variants: 116
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HGVS dbSNP
NC_000023.11:g.18582217_18582221del rs766847265
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.100-7C>T rs752279222
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206
NM_001323289.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
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.1177A>G (p.Thr393Ala) rs1187227979
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
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) rs1602286261
NM_001323289.2(CDKL5):c.1344G>A (p.Met448Ile) rs1555952013
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.1452C>A (p.Thr484=) rs760623086
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.1579C>T (p.Pro527Ser) rs1275389347
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=) rs147300538
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=) rs751738489
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.1743T>C (p.His581=) rs1602286800
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988
NM_001323289.2(CDKL5):c.1782T>C (p.Tyr594=) rs768214366
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.1944+6G>A rs1602287049
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431
NM_001323289.2(CDKL5):c.2046+3A>G rs751000827
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+172C>A rs79558557
NM_001323289.2(CDKL5):c.2152+195G>A rs373744056
NM_001323289.2(CDKL5):c.2152+48C>T rs267608652
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=) rs753606345
NM_001323289.2(CDKL5):c.2276+9T>G rs1555953298
NM_001323289.2(CDKL5):c.2277-7C>T rs1245961569
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=) rs1602269399
NM_001323289.2(CDKL5):c.2376+158A>G rs144309559
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
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.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2496+3G>A rs1057523074
NM_001323289.2(CDKL5):c.2497-10T>G rs1057522389
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
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.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.283-43G>A rs267608448
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
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.404-9A>G rs1037467164
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.464-40_464-37del rs267608481
NM_001323289.2(CDKL5):c.480G>A (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490
NM_001323289.2(CDKL5):c.554+10C>T rs755385076
NM_001323289.2(CDKL5):c.555-19C>G rs75057928
NM_001323289.2(CDKL5):c.555-7T>A rs1395266347
NM_001323289.2(CDKL5):c.65-13C>T rs532222548
NM_001323289.2(CDKL5):c.681A>G (p.Leu227=) rs1057522628
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr)
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057
NM_001323289.2(CDKL5):c.825+180G>A rs369394603
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.909G>A (p.Leu303=) rs1159901195
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597
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.978-49_978-41del rs267608554
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser)

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