ClinVar Miner

List of variants reported as likely benign for CDKL5 disorder by Invitae

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
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_000330.4(RS1):c.185-3093C>G rs1418563117 0.00009
NM_000330.4(RS1):c.185-3213A>C rs143243059 0.00009
NM_001323289.2(CDKL5):c.554+10C>T rs755385076 0.00009
NM_001323289.2(CDKL5):c.513C>T (p.Tyr171=) rs267608490 0.00008
NM_000330.4(RS1):c.185-3208C>T rs140944590 0.00007
NM_001323289.2(CDKL5):c.1233C>T (p.Ala411=) rs907733307 0.00007
NM_000330.4(RS1):c.184+3198C>T rs987192406 0.00006
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_000330.4(RS1):c.184+3143G>T rs757994307 0.00005
NM_000330.4(RS1):c.326+1115G>A rs951430019 0.00005
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_000330.4(RS1):c.185-3221G>C rs374054249 0.00004
NM_000330.4(RS1):c.326+1151T>C rs774743991 0.00004
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 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.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_000330.4(RS1):c.184+3194A>G rs587783162 0.00003
NM_000330.4(RS1):c.184+3205C>T rs763292733 0.00003
NM_000330.4(RS1):c.184+3229G>T rs1247449149 0.00003
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_000330.4(RS1):c.184+3119G>A rs762576315 0.00002
NM_000330.4(RS1):c.184+3151C>T rs910286513 0.00002
NM_000330.4(RS1):c.184+3160G>T rs587783163 0.00002
NM_000330.4(RS1):c.184+3171C>T rs727503848 0.00002
NM_000330.4(RS1):c.184+3190C>A rs267608667 0.00002
NM_000330.4(RS1):c.185-3188G>A rs267608665 0.00002
NM_000330.4(RS1):c.326+1130C>T rs1487927674 0.00002
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.2572C>T (p.Arg858Cys) rs773760466 0.00002
NM_000330.4(RS1):c.184+3124T>C rs776601149 0.00001
NM_000330.4(RS1):c.184+3128G>T rs768289707 0.00001
NM_000330.4(RS1):c.185-3121C>T rs368344738 0.00001
NM_000330.4(RS1):c.185-3161G>C rs1064794669 0.00001
NM_000330.4(RS1):c.326+1114C>T rs369383134 0.00001
NM_000330.4(RS1):c.326+1159C>G rs587783160 0.00001
NM_000330.4(RS1):c.326+1160T>C rs773644857 0.00001
NM_000330.4(RS1):c.326+1190T>C rs371658418 0.00001
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.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_000330.4(RS1):c.184+3117C>T
NM_000330.4(RS1):c.184+3145C>G
NM_000330.4(RS1):c.184+3151C>G
NM_000330.4(RS1):c.184+3158_184+3167del rs1363899499
NM_000330.4(RS1):c.184+3201G>C rs376960593
NM_000330.4(RS1):c.184+3232C>G
NM_000330.4(RS1):c.185-3058C>A rs980932278
NM_000330.4(RS1):c.185-3074G>A
NM_000330.4(RS1):c.185-3103T>C
NM_000330.4(RS1):c.185-3124G>A rs1602315522
NM_000330.4(RS1):c.185-3125C>T
NM_000330.4(RS1):c.185-3129G>A rs2147197730
NM_000330.4(RS1):c.185-3157G>A
NM_000330.4(RS1):c.185-3221G>A rs374054249
NM_000330.4(RS1):c.326+1084C>T rs1927762103
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000330.4(RS1):c.326+1105T>C
NM_000330.4(RS1):c.326+1193T>C
NM_001323289.2(CDKL5):c.100-20C>T
NM_001323289.2(CDKL5):c.1011T>C (p.Ser337=)
NM_001323289.2(CDKL5):c.1062C>T (p.Pro354=)
NM_001323289.2(CDKL5):c.1106G>A (p.Gly369Glu)
NM_001323289.2(CDKL5):c.1136T>G (p.Leu379Arg)
NM_001323289.2(CDKL5):c.1164C>T (p.Ser388=)
NM_001323289.2(CDKL5):c.1198A>C (p.Asn400His) rs921600020
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.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.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.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.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.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.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>G
NM_001323289.2(CDKL5):c.2153-16C>A
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.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.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.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.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.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.295T>C (p.Leu99=) rs2147142589
NM_001323289.2(CDKL5):c.396C>T (p.Val132=) rs1602271730
NM_001323289.2(CDKL5):c.404-16T>A
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.555-17C>T
NM_001323289.2(CDKL5):c.555-19C>A
NM_001323289.2(CDKL5):c.555-19C>T
NM_001323289.2(CDKL5):c.588G>A (p.Ser196=)
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.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+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.978-3T>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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.