ClinVar Miner

List of variants in gene CDKL5 reported as likely benign by GeneDx

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Gene type:
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Total variants: 58
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HGVS dbSNP
NC_000023.11:g.18582217_18582221del
NM_001323289.2(CDKL5):c.-5T>A rs79219416
NM_001323289.2(CDKL5):c.145+6T>G rs753819165
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.1768G>A (p.Glu590Lys)
NM_001323289.2(CDKL5):c.1944+6G>A
NM_001323289.2(CDKL5):c.2046+16A>G
NM_001323289.2(CDKL5):c.2152+172C>A
NM_001323289.2(CDKL5):c.2152+195G>A
NM_001323289.2(CDKL5):c.2376+158A>G
NM_001323289.2(CDKL5):c.2680G>A (p.Ala894Thr) rs763110247
NM_001323289.2(CDKL5):c.283-13A>G rs587783404
NM_001323289.2(CDKL5):c.404-16del rs748656624
NM_001323289.2(CDKL5):c.825+180G>A
NM_001323289.2(CDKL5):c.886A>G (p.Thr296Ala) rs751995225
NM_003159.2(CDKL5):c.-163+10C>T rs1057520478
NM_003159.2(CDKL5):c.-163+13G>A rs913326290
NM_003159.2(CDKL5):c.-174G>A rs1555928752
NM_003159.2(CDKL5):c.-18A>G rs1483246379
NM_003159.2(CDKL5):c.1098C>T (p.Phe366=) rs777079786
NM_003159.2(CDKL5):c.1122T>A (p.Ala374=) rs141452495
NM_003159.2(CDKL5):c.1278A>C (p.Ser426=) rs267608620
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.146-19A>G rs1057523365
NM_003159.2(CDKL5):c.1471G>A (p.Ala491Thr) rs1555952046
NM_003159.2(CDKL5):c.1526C>T (p.Ala509Val) rs779325312
NM_003159.2(CDKL5):c.1527G>A (p.Ala509=) rs369561849
NM_003159.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804
NM_003159.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.192T>G (p.Leu64=) rs145496868
NM_003159.2(CDKL5):c.1930C>T (p.Leu644Phe) rs1057524785
NM_003159.2(CDKL5):c.2046+3A>G rs751000827
NM_003159.2(CDKL5):c.2086G>A (p.Ala696Thr) rs374518046
NM_003159.2(CDKL5):c.2106C>T (p.His702=) rs1057520416
NM_003159.2(CDKL5):c.2107C>G (p.Leu703Val) rs776965205
NM_003159.2(CDKL5):c.2109A>T (p.Leu703=) rs761789190
NM_003159.2(CDKL5):c.2152+10C>G rs763466606
NM_003159.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460
NM_003159.2(CDKL5):c.2276+9T>G rs1555953298
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_003159.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144
NM_003159.2(CDKL5):c.2496+3G>A rs1057523074
NM_003159.2(CDKL5):c.2497-10T>G rs1057522389
NM_003159.2(CDKL5):c.2679C>T (p.Pro893=) rs777919249
NM_003159.2(CDKL5):c.2713+20G>A rs1555955268
NM_003159.2(CDKL5):c.404-9A>G rs1037467164
NM_003159.2(CDKL5):c.462T>C (p.Phe154=) rs898874642
NM_003159.2(CDKL5):c.480G>A (p.Leu160=) rs750878642
NM_003159.2(CDKL5):c.65-13C>T rs532222548
NM_003159.2(CDKL5):c.681A>G (p.Leu227=) rs1057522628
NM_003159.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057
NM_003159.2(CDKL5):c.846A>G (p.Pro282=) rs773523708
NM_003159.2(CDKL5):c.93A>G (p.Arg31=) rs140332992
NM_003159.2(CDKL5):c.950A>G (p.His317Arg) rs756537286
NM_003159.2(CDKL5):c.967T>C (p.Leu323=) rs527360143

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