ClinVar Miner

List of variants in gene CDKL5 reported as likely benign for not provided

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Gene type:
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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.825+170A>G rs17313049 0.02765
NM_001323289.2(CDKL5):c.2152+172C>A rs79558557 0.02011
NM_001323289.2(CDKL5):c.-163+136T>C rs187188170 0.01388
NM_001323289.2(CDKL5):c.1944+113T>G rs186743142 0.01198
NM_001323289.2(CDKL5):c.100-243A>G rs187395206 0.01071
NM_001323289.2(CDKL5):c.2153-42A>G rs371999833 0.00997
NM_001323289.2(CDKL5):c.744+112T>G rs150769601 0.00636
NM_001323289.2(CDKL5):c.403+317T>C rs73636683 0.00599
NM_001323289.2(CDKL5):c.2153-235G>A rs142836837 0.00472
NM_001323289.2(CDKL5):c.283-213T>A rs137967555 0.00471
NM_001323289.2(CDKL5):c.2376+158A>G rs144309559 0.00360
NM_001323289.2(CDKL5):c.2152+195G>A rs373744056 0.00331
NM_001323289.2(CDKL5):c.2047-178G>A rs183698277 0.00326
NM_001323289.2(CDKL5):c.-163+139_-163+140insTT rs1401710048 0.00323
NM_001323289.2(CDKL5):c.825+180G>A rs369394603 0.00296
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001323289.2(CDKL5):c.64+44A>T rs148366254 0.00120
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.99+34A>G rs137874941 0.00069
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
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.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.1564T>G (p.Leu522Val) rs781427744 0.00006
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 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.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 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.291C>T (p.Leu97=) rs138125282 0.00004
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00004
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=) rs774307489 0.00003
NM_001323289.2(CDKL5):c.2546C>T (p.Ser849Leu) rs1064795982 0.00003
NM_001323289.2(CDKL5):c.194G>A (p.Arg65Gln) rs267608436 0.00002
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225 0.00002
NM_001323289.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766 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.1692T>C (p.His564=) rs765011302 0.00001
NM_001323289.2(CDKL5):c.2046+16A>G rs1157430431 0.00001
NM_001323289.2(CDKL5):c.2318A>G (p.Glu773Gly) rs1218990219 0.00001
NM_001323289.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964 0.00001
NM_001323289.2(CDKL5):c.2556G>A (p.Pro852=) rs748905018 0.00001
NM_001323289.2(CDKL5):c.555-7T>A rs1395266347 0.00001
NM_001323289.2(CDKL5):c.-163+16773TTTTG[6] rs60114040
NM_001323289.2(CDKL5):c.1342A>G (p.Met448Val) rs1602286261
NM_001323289.2(CDKL5):c.138C>T (p.Asp46=) rs2147132270
NM_001323289.2(CDKL5):c.1721C>A (p.Pro574Gln) rs199897804
NM_001323289.2(CDKL5):c.1743T>C (p.His581=) rs1602286800
NM_001323289.2(CDKL5):c.1944+247del rs372238701
NM_001323289.2(CDKL5):c.1944+6G>A rs1602287049
NM_001323289.2(CDKL5):c.2153-47_2153-38del rs368997720
NM_001323289.2(CDKL5):c.2297G>A (p.Ser766Asn)
NM_001323289.2(CDKL5):c.2377-1232G>A
NM_001323289.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_001323289.2(CDKL5):c.404-135dup rs368222814
NM_001323289.2(CDKL5):c.463+269_463+273del rs766847265
NM_001323289.2(CDKL5):c.480G>C (p.Leu160=) rs750878642

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