ClinVar Miner

List of variants in gene CDKL5 reported as benign

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Gene type:
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Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2376+118T>A rs3752484 0.44413
NM_001323289.2(CDKL5):c.1944+93_1944+94insT rs199988024 0.05052
NM_001323289.2(CDKL5):c.404-105T>G rs73636684 0.04522
NM_001323289.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150 0.03249
NM_001323289.2(CDKL5):c.555-19C>G rs75057928 0.02527
NM_001323289.2(CDKL5):c.-163+16465A>G rs2283722 0.02524
NM_001323289.2(CDKL5):c.100-144A>G rs147529625 0.02301
NM_001323289.2(CDKL5):c.2046+79G>A rs147819758 0.02285
NM_001323289.2(CDKL5):c.464-298A>T rs149852919 0.01636
NM_001323289.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957 0.00451
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
NM_003159.2(CDKL5):c.-265C>G rs587783397 0.00223
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001323289.2(CDKL5):c.283-12T>C rs188879559 0.00110
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512 0.00085
NM_001323289.2(CDKL5):c.2046+12del rs766762463 0.00076
NM_001323289.2(CDKL5):c.99+34A>G rs137874941 0.00069
NM_001323289.2(CDKL5):c.64+26G>A rs374664378 0.00051
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1548C>T (p.Tyr516=) rs751789670 0.00029
NM_001323289.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442 0.00024
NM_001323289.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632 0.00021
NM_001323289.2(CDKL5):c.2276+12G>C rs372909446 0.00020
NM_001323289.2(CDKL5):c.180G>A (p.Glu60=) rs148697943 0.00018
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.463+22T>C rs267608478 0.00014
NM_001323289.2(CDKL5):c.464-9A>G rs374030184 0.00013
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.2555C>T (p.Pro852Leu) rs587783156 0.00012
NM_001323289.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935 0.00011
NM_001323289.2(CDKL5):c.283-13A>G rs587783404 0.00011
NM_001323289.2(CDKL5):c.2157A>T (p.Pro719=) rs200333632 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001323289.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849 0.00007
NM_001323289.2(CDKL5):c.1818A>G (p.Gln606=) rs587783154 0.00007
NM_001323289.2(CDKL5):c.2256A>G (p.Arg752=) rs770193102 0.00007
NM_001323289.2(CDKL5):c.1064G>A (p.Arg355Gln) rs189400843 0.00006
NM_001323289.2(CDKL5):c.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_001323289.2(CDKL5):c.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg) rs1481627825 0.00006
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.2377-31T>C rs267608658 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.283-14T>C rs776132140 0.00005
NM_001323289.2(CDKL5):c.64+19G>A rs776988929 0.00005
NM_001323289.2(CDKL5):c.950A>G (p.His317Arg) rs756537286 0.00005
NM_001323289.2(CDKL5):c.978-23T>C rs267608555 0.00005
NM_001323289.2(CDKL5):c.1768G>A (p.Glu590Lys) rs372629988 0.00004
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312 0.00003
NM_001323289.2(CDKL5):c.2497-17C>T rs780795025 0.00003
NM_001323289.2(CDKL5):c.249A>G (p.Gly83=) rs764954859 0.00003
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982 0.00003
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.1098C>T (p.Phe366=) rs777079786 0.00002
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.2581C>T (p.Pro861Ser) rs1430214724 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_001323289.2(CDKL5):c.1088A>G (p.Asn363Ser) rs755167459 0.00001
NM_001323289.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001323289.2(CDKL5):c.1422C>T (p.Pro474=) rs773921712 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1767C>T (p.His589=) rs267608645 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001323289.2(CDKL5):c.216T>A (p.Ile72=) rs267608439 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.463+8A>G rs769244237 0.00001
NM_001323289.2(CDKL5):c.554+11G>A rs267608498 0.00001
NM_001323289.2(CDKL5):c.915T>C (p.Arg305=) rs1170498240 0.00001
GRCh37/hg19 Xp22.13(chrX:18479297-18501928)x3
GRCh37/hg19 Xp22.13(chrX:18493983-18501928)x3
NM_001323289.2(CDKL5):c.-162-103C>G rs2147091932
NM_001323289.2(CDKL5):c.-163+16773TTTTG[10] rs60114040
NM_001323289.2(CDKL5):c.-163+16773TTTTG[8] rs60114040
NM_001323289.2(CDKL5):c.-163+19A>C rs937436369
NM_001323289.2(CDKL5):c.1382A>T (p.Asn461Ile) rs267608629
NM_001323289.2(CDKL5):c.145+4_145+5dup rs776844003
NM_001323289.2(CDKL5):c.145+5AT[10] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[11] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[13] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[14] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[6] rs745969938
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.1689A>C (p.Arg563Ser)
NM_001323289.2(CDKL5):c.1700C>T (p.Thr567Met)
NM_001323289.2(CDKL5):c.1944+247dup rs372238701
NM_001323289.2(CDKL5):c.2103A>G (p.Arg701=)
NM_001323289.2(CDKL5):c.2152+18A>G
NM_001323289.2(CDKL5):c.2153-18T>G
NM_001323289.2(CDKL5):c.2153-38dup rs368997720
NM_001323289.2(CDKL5):c.2215C>T (p.Leu739=) rs747554139
NM_001323289.2(CDKL5):c.2277-13T>C
NM_001323289.2(CDKL5):c.2308C>A (p.Gln770Lys) rs786204954
NM_001323289.2(CDKL5):c.2355_2357del (p.Lys789del)
NM_001323289.2(CDKL5):c.2666T>G (p.Ile889Ser)
NM_001323289.2(CDKL5):c.2677C>T (p.Pro893Ser)
NM_001323289.2(CDKL5):c.2706G>T (p.Gln902His)
NM_001323289.2(CDKL5):c.283-99C>A rs4825261
NM_001323289.2(CDKL5):c.404-53T>C rs786204956
NM_001323289.2(CDKL5):c.405T>C (p.Asp135=) rs786204957
NM_001323289.2(CDKL5):c.573C>G (p.Ser191=) rs786204958
NM_001323289.2(CDKL5):c.573C>T (p.Ser191=)
NM_001323289.2(CDKL5):c.64+305dup rs200439467
NM_001323289.2(CDKL5):c.977+7A>G rs770011012
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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