ClinVar Miner

List of variants in gene CDKL5 reported as likely benign for atypical Rett syndrome

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 269
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.145+17A>G rs199814742 0.00355
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.554+10C>T rs755385076 0.00009
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 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.603T>C (p.Leu201=) rs763478005 0.00006
NM_001323289.2(CDKL5):c.761A>G (p.His254Arg) rs1481627825 0.00006
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057 0.00005
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00004
NM_001323289.2(CDKL5):c.1116T>A (p.Ala372=) rs148302590 0.00004
NM_001323289.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495 0.00004
NM_001323289.2(CDKL5):c.145+6T>G rs753819165 0.00004
NM_001323289.2(CDKL5):c.145+8T>G rs757030306 0.00004
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.2465G>A (p.Arg822His) rs376429571 0.00004
NM_001323289.2(CDKL5):c.2573G>A (p.Arg858His) rs759083770 0.00004
NM_001323289.2(CDKL5):c.291C>T (p.Leu97=) rs138125282 0.00004
NM_001323289.2(CDKL5):c.987C>T (p.Ala329=) rs142665931 0.00004
NM_001323289.2(CDKL5):c.1071C>T (p.Asp357=) rs144204039 0.00003
NM_001323289.2(CDKL5):c.1614G>A (p.Thr538=) rs147300538 0.00003
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712 0.00003
NM_001323289.2(CDKL5):c.2046+9C>T rs1215810014 0.00003
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=) rs774307489 0.00003
NM_001323289.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046 0.00003
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982 0.00003
NM_001323289.2(CDKL5):c.554+19A>G rs911879541 0.00003
NM_001323289.2(CDKL5):c.724C>A (p.Pro242Thr) rs1161142799 0.00003
NM_001323289.2(CDKL5):c.909G>A (p.Leu303=) rs1159901195 0.00003
NM_001323289.2(CDKL5):c.1080C>T (p.Leu360=) rs911838999 0.00002
NM_001323289.2(CDKL5):c.145+12T>G rs1394726020 0.00002
NM_001323289.2(CDKL5):c.1476G>A (p.Leu492=) rs1458249124 0.00002
NM_001323289.2(CDKL5):c.1616G>C (p.Arg539Thr) rs1356745875 0.00002
NM_001323289.2(CDKL5):c.1701G>A (p.Thr567=) rs751738489 0.00002
NM_001323289.2(CDKL5):c.1711T>C (p.Leu571=) rs755177112 0.00002
NM_001323289.2(CDKL5):c.1910C>G (p.Ala637Gly) rs750727784 0.00002
NM_001323289.2(CDKL5):c.1968G>A (p.Glu656=) rs1451908414 0.00002
NM_001323289.2(CDKL5):c.2152+15G>A rs1441325648 0.00002
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met) rs1005844306 0.00002
NM_001323289.2(CDKL5):c.2487G>A (p.Leu829=) rs1467875005 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.1038C>T (p.Ile346=) rs754663076 0.00001
NM_001323289.2(CDKL5):c.1066G>C (p.Ala356Pro) rs774594152 0.00001
NM_001323289.2(CDKL5):c.1086C>T (p.Ala362=) rs761253221 0.00001
NM_001323289.2(CDKL5):c.1177A>G (p.Thr393Ala) rs1187227979 0.00001
NM_001323289.2(CDKL5):c.1286C>T (p.Pro429Leu) rs377263491 0.00001
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp) rs748731763 0.00001
NM_001323289.2(CDKL5):c.1389G>A (p.Lys463=) rs773733498 0.00001
NM_001323289.2(CDKL5):c.1400A>G (p.His467Arg) rs267608631 0.00001
NM_001323289.2(CDKL5):c.1446C>T (p.Tyr482=) rs372655753 0.00001
NM_001323289.2(CDKL5):c.1452C>A (p.Thr484=) rs760623086 0.00001
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001323289.2(CDKL5):c.1636G>A (p.Gly546Arg) rs587783153 0.00001
NM_001323289.2(CDKL5):c.1649G>A (p.Arg550Gln) rs745508309 0.00001
NM_001323289.2(CDKL5):c.1676G>A (p.Arg559Gln) rs1926294168 0.00001
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076 0.00001
NM_001323289.2(CDKL5):c.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.1752A>G (p.Ser584=) rs1282721902 0.00001
NM_001323289.2(CDKL5):c.1786C>T (p.Leu596=) rs776627003 0.00001
NM_001323289.2(CDKL5):c.1791C>T (p.Gly597=) rs1238731278 0.00001
NM_001323289.2(CDKL5):c.1821T>G (p.Arg607=) rs1352220667 0.00001
NM_001323289.2(CDKL5):c.1827T>C (p.His609=) rs764272402 0.00001
NM_001323289.2(CDKL5):c.2031A>G (p.Thr677=) rs1416458696 0.00001
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431 0.00001
NM_001323289.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190 0.00001
NM_001323289.2(CDKL5):c.2152+14C>T rs766682793 0.00001
NM_001323289.2(CDKL5):c.2152+9A>C rs903712991 0.00001
NM_001323289.2(CDKL5):c.2194G>A (p.Val732Met) rs888325600 0.00001
NM_001323289.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769 0.00001
NM_001323289.2(CDKL5):c.2241C>T (p.Thr747=) rs753606345 0.00001
NM_001323289.2(CDKL5):c.2244C>T (p.Asn748=) rs963899526 0.00001
NM_001323289.2(CDKL5):c.2272C>T (p.Pro758Ser) rs1210870589 0.00001
NM_001323289.2(CDKL5):c.2277-7C>T rs1245961569 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001323289.2(CDKL5):c.2496+14G>A rs1189045100 0.00001
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=) rs748905018 0.00001
NM_001323289.2(CDKL5):c.2679C>G (p.Pro893=) rs777919249 0.00001
NM_001323289.2(CDKL5):c.333A>G (p.Lys111=) rs786204955 0.00001
NM_001323289.2(CDKL5):c.404-9A>G rs1037467164 0.00001
NM_001323289.2(CDKL5):c.555C>T (p.Gly185=) rs904580767 0.00001
NM_001323289.2(CDKL5):c.576G>A (p.Val192=) rs1461167746 0.00001
NM_001323289.2(CDKL5):c.65-13C>T rs532222548 0.00001
NM_001323289.2(CDKL5):c.65-4A>G rs777490768 0.00001
NM_001323289.2(CDKL5):c.858C>T (p.Tyr286=) rs766511365 0.00001
NM_001323289.2(CDKL5):c.913C>T (p.Arg305Cys) rs1064794671 0.00001
NM_001323289.2(CDKL5):c.933A>G (p.Ala311=) rs1348754333 0.00001
NM_001323289.2(CDKL5):c.939A>G (p.Arg313=) rs370986597 0.00001
NM_001323289.2(CDKL5):c.100-20C>T
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
NM_001323289.2(CDKL5):c.105A>G (p.Thr35=)
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
NM_001323289.2(CDKL5):c.1065G>A (p.Arg355=)
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
NM_001323289.2(CDKL5):c.1152C>T (p.Tyr384=)
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
NM_001323289.2(CDKL5):c.1209A>G (p.Pro403=)
NM_001323289.2(CDKL5):c.120G>C (p.Ala40=)
NM_001323289.2(CDKL5):c.1213CTT[1] (p.Leu406del) rs759725174
NM_001323289.2(CDKL5):c.1242A>G (p.Lys414=)
NM_001323289.2(CDKL5):c.1272G>A (p.Lys424=) rs1926270928
NM_001323289.2(CDKL5):c.1287A>G (p.Pro429=) rs2147160563
NM_001323289.2(CDKL5):c.1311C>T (p.Asn437=)
NM_001323289.2(CDKL5):c.1317A>G (p.Arg439=) rs2147160587
NM_001323289.2(CDKL5):c.1339T>C (p.Phe447Leu)
NM_001323289.2(CDKL5):c.1377G>A (p.Gln459=) rs2147160664
NM_001323289.2(CDKL5):c.1382A>G (p.Asn461Ser) rs267608629
NM_001323289.2(CDKL5):c.1387A>G (p.Lys463Glu)
NM_001323289.2(CDKL5):c.1413C>T (p.Asp471=) rs2147160714
NM_001323289.2(CDKL5):c.1425G>A (p.Gln475=)
NM_001323289.2(CDKL5):c.1442C>G (p.Ser481Cys)
NM_001323289.2(CDKL5):c.145+17_145+42del rs1305984337
NM_001323289.2(CDKL5):c.145+5AT[15] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[6] rs745969938
NM_001323289.2(CDKL5):c.145+5AT[8]
NM_001323289.2(CDKL5):c.145+5AT[9]
NM_001323289.2(CDKL5):c.1455_1460del (p.Ala486_Lys487del) rs587783114
NM_001323289.2(CDKL5):c.146-14T>G
NM_001323289.2(CDKL5):c.146-15T>C
NM_001323289.2(CDKL5):c.146-16A>G
NM_001323289.2(CDKL5):c.146-18_146-16del
NM_001323289.2(CDKL5):c.146-7A>G
NM_001323289.2(CDKL5):c.146-8C>T
NM_001323289.2(CDKL5):c.1515G>A (p.Arg505=)
NM_001323289.2(CDKL5):c.1542T>C (p.Ser514=)
NM_001323289.2(CDKL5):c.1554A>G (p.Pro518=)
NM_001323289.2(CDKL5):c.1580C>T (p.Pro527Leu) rs748615147
NM_001323289.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_001323289.2(CDKL5):c.1596C>T (p.Pro532=)
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg) rs1602286720
NM_001323289.2(CDKL5):c.1701G>T (p.Thr567=) rs751738489
NM_001323289.2(CDKL5):c.1713G>A (p.Leu571=)
NM_001323289.2(CDKL5):c.1795A>G (p.Thr599Ala) rs761662406
NM_001323289.2(CDKL5):c.1800C>T (p.Ser600=)
NM_001323289.2(CDKL5):c.1815G>A (p.Gln605=)
NM_001323289.2(CDKL5):c.1821T>C (p.Arg607=)
NM_001323289.2(CDKL5):c.1866C>T (p.Ala622=)
NM_001323289.2(CDKL5):c.1890C>T (p.Ser630=) rs2147161290
NM_001323289.2(CDKL5):c.1906G>T (p.Ala636Ser)
NM_001323289.2(CDKL5):c.1944+15C>G
NM_001323289.2(CDKL5):c.1945-5T>C rs1064796245
NM_001323289.2(CDKL5):c.1945-8A>C rs2147164149
NM_001323289.2(CDKL5):c.1947T>C (p.Pro649=) rs2147164157
NM_001323289.2(CDKL5):c.1980A>G (p.Ala660=)
NM_001323289.2(CDKL5):c.1989G>A (p.Ser663=) rs1156694391
NM_001323289.2(CDKL5):c.2016C>T (p.Thr672=)
NM_001323289.2(CDKL5):c.2034C>T (p.Arg678=)
NM_001323289.2(CDKL5):c.2037G>A (p.Gln679=)
NM_001323289.2(CDKL5):c.2040G>A (p.Lys680=) rs761995288
NM_001323289.2(CDKL5):c.2046+10A>G
NM_001323289.2(CDKL5):c.2046+11A>G rs111749777
NM_001323289.2(CDKL5):c.2046+19T>C
NM_001323289.2(CDKL5):c.2047-15T>A
NM_001323289.2(CDKL5):c.2047-5C>T
NM_001323289.2(CDKL5):c.2061T>C (p.His687=)
NM_001323289.2(CDKL5):c.2085A>G (p.Thr695=) rs2147164693
NM_001323289.2(CDKL5):c.2089C>G (p.Pro697Ala)
NM_001323289.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_001323289.2(CDKL5):c.2121T>C (p.Pro707=)
NM_001323289.2(CDKL5):c.2135T>C (p.Val712Ala) rs1926475375
NM_001323289.2(CDKL5):c.2152+10C>T rs763466606
NM_001323289.2(CDKL5):c.2152+16G>A
NM_001323289.2(CDKL5):c.2152+9A>T
NM_001323289.2(CDKL5):c.2153-10C>A
NM_001323289.2(CDKL5):c.2153-10C>G
NM_001323289.2(CDKL5):c.2153-16C>A
NM_001323289.2(CDKL5):c.2153-17A>C
NM_001323289.2(CDKL5):c.2153-20C>A
NM_001323289.2(CDKL5):c.2157A>G (p.Pro719=)
NM_001323289.2(CDKL5):c.2164C>T (p.Arg722Cys)
NM_001323289.2(CDKL5):c.2167C>T (p.Pro723Ser) rs2147167531
NM_001323289.2(CDKL5):c.2193T>C (p.Asn731=)
NM_001323289.2(CDKL5):c.21T>C (p.Gly7=) rs1922604912
NM_001323289.2(CDKL5):c.2217A>G (p.Leu739=) rs1602292116
NM_001323289.2(CDKL5):c.2218C>G (p.Pro740Ala)
NM_001323289.2(CDKL5):c.222G>A (p.Glu74=)
NM_001323289.2(CDKL5):c.2243A>C (p.Asn748Thr) rs748459878
NM_001323289.2(CDKL5):c.2268C>T (p.Phe756=)
NM_001323289.2(CDKL5):c.2276+18T>C
NM_001323289.2(CDKL5):c.2277-13T>A rs1413641177
NM_001323289.2(CDKL5):c.2277-8T>C
NM_001323289.2(CDKL5):c.2310A>T (p.Gln770His) rs2147172236
NM_001323289.2(CDKL5):c.2319A>G (p.Glu773=)
NM_001323289.2(CDKL5):c.231A>G (p.Glu77=) rs1602269399
NM_001323289.2(CDKL5):c.234A>G (p.Ala78=) rs1288226865
NM_001323289.2(CDKL5):c.2376+11G>T
NM_001323289.2(CDKL5):c.2376+18T>A
NM_001323289.2(CDKL5):c.2377-18G>C
NM_001323289.2(CDKL5):c.2377-4C>G
NM_001323289.2(CDKL5):c.2389G>C (p.Asp797His) rs140313320
NM_001323289.2(CDKL5):c.2426A>G (p.His809Arg) rs1602298609
NM_001323289.2(CDKL5):c.2466C>T (p.Arg822=)
NM_001323289.2(CDKL5):c.2485C>G (p.Leu829Val)
NM_001323289.2(CDKL5):c.2487G>C (p.Leu829=)
NM_001323289.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_001323289.2(CDKL5):c.2496+16A>G
NM_001323289.2(CDKL5):c.2496+18C>G
NM_001323289.2(CDKL5):c.2497-6_2497-3del rs2147178840
NM_001323289.2(CDKL5):c.2505A>G (p.Pro835=) rs2147178868
NM_001323289.2(CDKL5):c.2655G>A (p.Gly885=)
NM_001323289.2(CDKL5):c.2668C>A (p.Arg890=) rs1354788122
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.2685G>A (p.Pro895=)
NM_001323289.2(CDKL5):c.273T>C (p.Tyr91=)
NM_001323289.2(CDKL5):c.282+15G>A
NM_001323289.2(CDKL5):c.282+16C>A rs1456184121
NM_001323289.2(CDKL5):c.282+18A>G
NM_001323289.2(CDKL5):c.283-11T>G
NM_001323289.2(CDKL5):c.283-12_283-9del rs754433548
NM_001323289.2(CDKL5):c.283-15C>G
NM_001323289.2(CDKL5):c.283-15_283-14del
NM_001323289.2(CDKL5):c.283-18A>T
NM_001323289.2(CDKL5):c.283-25A>G
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=) rs2147142589
NM_001323289.2(CDKL5):c.327T>A (p.Pro109=)
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
NM_001323289.2(CDKL5):c.404-15dup
NM_001323289.2(CDKL5):c.404-16T>A
NM_001323289.2(CDKL5):c.436A>G (p.Asn146Asp) rs2147144038
NM_001323289.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_001323289.2(CDKL5):c.463+16A>G
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.480G>T (p.Leu160=) rs750878642
NM_001323289.2(CDKL5):c.507A>C (p.Thr169=)
NM_001323289.2(CDKL5):c.51G>A (p.Gly17=)
NM_001323289.2(CDKL5):c.532C>A (p.Arg178=)
NM_001323289.2(CDKL5):c.546C>T (p.Leu182=)
NM_001323289.2(CDKL5):c.554+17A>G
NM_001323289.2(CDKL5):c.554+7_554+12del
NM_001323289.2(CDKL5):c.555-17C>T
NM_001323289.2(CDKL5):c.555-19C>A
NM_001323289.2(CDKL5):c.555-19C>T
NM_001323289.2(CDKL5):c.555-9A>G
NM_001323289.2(CDKL5):c.588G>A (p.Ser196=)
NM_001323289.2(CDKL5):c.615C>T (p.Ser205=)
NM_001323289.2(CDKL5):c.621A>T (p.Gly207=)
NM_001323289.2(CDKL5):c.64+14T>C
NM_001323289.2(CDKL5):c.64+18C>T
NM_001323289.2(CDKL5):c.65-7A>C
NM_001323289.2(CDKL5):c.660T>C (p.Leu220=)
NM_001323289.2(CDKL5):c.678G>T (p.Val226=)
NM_001323289.2(CDKL5):c.735T>C (p.His245=)
NM_001323289.2(CDKL5):c.745-15G>A rs2147153513
NM_001323289.2(CDKL5):c.745-20C>A
NM_001323289.2(CDKL5):c.783A>G (p.Arg261=) rs1925958381
NM_001323289.2(CDKL5):c.810A>G (p.Leu270=) rs2147153595
NM_001323289.2(CDKL5):c.825+10A>G
NM_001323289.2(CDKL5):c.825+7C>T
NM_001323289.2(CDKL5):c.825+9A>G rs2147153613
NM_001323289.2(CDKL5):c.907C>T (p.Leu303=)
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)
NM_001323289.2(CDKL5):c.915T>G (p.Arg305=) rs1170498240
NM_001323289.2(CDKL5):c.918T>C (p.Ser306=)
NM_001323289.2(CDKL5):c.978-14T>C
NM_001323289.2(CDKL5):c.978-3T>C rs2147160073
NM_001323289.2(CDKL5):c.984A>G (p.Gln328=) rs2147160092
NM_001323289.2(CDKL5):c.988G>A (p.Gly330Ser) rs760930296
NM_001323289.2(CDKL5):c.99+9A>C
NM_001323289.2(CDKL5):c.99+9A>T rs1602233003

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