ClinVar Miner

List of variants in gene CDKL5 reported by Invitae

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Gene type:
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Total variants: 63
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HGVS dbSNP
NC_000023.11:g.(?_18506935)_(18510854_?)dup
NC_000023.11:g.(?_18564457)_(18581970_?)del
NM_003159.2(CDKL5):c.1038C>T (p.Ile346=) rs754663076
NM_003159.2(CDKL5):c.1116T>A (p.Ala372=)
NM_003159.2(CDKL5):c.1198A>C (p.Asn400His)
NM_003159.2(CDKL5):c.119C>T (p.Ala40Val) rs122460159
NM_003159.2(CDKL5):c.1213C>G (p.Leu405Val) rs1555951984
NM_003159.2(CDKL5):c.1234A>G (p.Lys412Glu) rs770340766
NM_003159.2(CDKL5):c.1246G>T (p.Glu416Ter) rs1555951991
NM_003159.2(CDKL5):c.1286C>T (p.Pro429Leu)
NM_003159.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977
NM_003159.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616
NM_003159.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148
NM_003159.2(CDKL5):c.145+27_145+28delAT rs745969938
NM_003159.2(CDKL5):c.145+27_145+28dupAT rs745969938
NM_003159.2(CDKL5):c.1455_1460delGGCCAA (p.Ala486_Lys487del) rs587783114
NM_003159.2(CDKL5):c.1519C>T (p.Gln507Ter) rs1555952052
NM_003159.2(CDKL5):c.1590A>C (p.Pro530=) rs891117762
NM_003159.2(CDKL5):c.1675C>T (p.Arg559Ter) rs267608395
NM_003159.2(CDKL5):c.1692T>C (p.His564=) rs765011302
NM_003159.2(CDKL5):c.1731G>A (p.Met577Ile) rs757573258
NM_003159.2(CDKL5):c.1797C>G (p.Thr599=) rs141478957
NM_003159.2(CDKL5):c.180G>A (p.Glu60=) rs148697943
NM_003159.2(CDKL5):c.1891A>G (p.Ile631Val)
NM_003159.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564
NM_003159.2(CDKL5):c.200_201delTC (p.Leu67Glnfs) rs1555949011
NM_003159.2(CDKL5):c.2022delC (p.Phe675Serfs) rs1060501860
NM_003159.2(CDKL5):c.2046+1G>A rs786204976
NM_003159.2(CDKL5):c.2142delC (p.Tyr716Thrfs)
NM_003159.2(CDKL5):c.2220A>G (p.Pro740=) rs142079769
NM_003159.2(CDKL5):c.2343delG (p.Arg781Serfs) rs62643614
NM_003159.2(CDKL5):c.2345C>A (p.Ser782Ter) rs1555954074
NM_003159.2(CDKL5):c.2372A>C (p.Gln791Pro) rs35478150
NM_003159.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_003159.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225
NM_003159.2(CDKL5):c.2445C>T (p.Ser815=) rs371902632
NM_003159.2(CDKL5):c.244delA (p.Arg82Glyfs) rs1555949041
NM_003159.2(CDKL5):c.2466C>G (p.Arg822=) rs146488512
NM_003159.2(CDKL5):c.2490G>C (p.Gln830His) rs1485485459
NM_003159.2(CDKL5):c.2493C>T (p.Thr831=) rs1555954758
NM_003159.2(CDKL5):c.2502G>T (p.Gln834His)
NM_003159.2(CDKL5):c.2541G>A (p.Ser847=) rs781774964
NM_003159.2(CDKL5):c.2635_2636delCT (p.Leu879Glufs) rs61753251
NM_003159.2(CDKL5):c.2652C>T (p.Gly884=) rs201473442
NM_003159.2(CDKL5):c.2673G>A (p.Gln891=) rs373448935
NM_003159.2(CDKL5):c.2682_2683insGGAA (p.Pro895Glyfs)
NM_003159.2(CDKL5):c.26T>C (p.Val9Ala)
NM_003159.2(CDKL5):c.282+1G>T
NM_003159.2(CDKL5):c.464-9A>G rs374030184
NM_003159.2(CDKL5):c.508G>T (p.Glu170Ter) rs1555950066
NM_003159.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_003159.2(CDKL5):c.583T>G (p.Trp195Gly)
NM_003159.2(CDKL5):c.614_617dup (p.Asp206Glufs) rs1555950465
NM_003159.2(CDKL5):c.638G>A (p.Gly213Glu)
NM_003159.2(CDKL5):c.659T>C (p.Leu220Pro) rs267608511
NM_003159.2(CDKL5):c.725delC (p.Pro242Leufs) rs1555950494
NM_003159.2(CDKL5):c.7A>T (p.Ile3Phe) rs138539908
NM_003159.2(CDKL5):c.826-2A>G rs1060501859
NM_003159.2(CDKL5):c.934A>G (p.Lys312Glu)
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.973A>G (p.Asn325Asp) rs756721244
NM_003159.2(CDKL5):c.987C>T (p.Ala329=) rs142665931

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