ClinVar Miner

List of variants in gene CDKL5 studied for Inborn genetic diseases

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2409G>A (p.Thr803=) rs145401225 0.00099
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001323289.2(CDKL5):c.1338A>T (p.Ser446=) rs139329419 0.00033
NM_001323289.2(CDKL5):c.1431T>C (p.Ser477=) rs143992148 0.00029
NM_001323289.2(CDKL5):c.1330C>T (p.Arg444Cys) rs61753977 0.00014
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001323289.2(CDKL5):c.1523T>C (p.Ile508Thr) rs201893287 0.00009
NM_001323289.2(CDKL5):c.1721C>T (p.Pro574Leu) rs199897804 0.00006
NM_001323289.2(CDKL5):c.192T>G (p.Leu64=) rs145496868 0.00005
NM_001323289.2(CDKL5):c.747T>C (p.Phe249=) rs1249923057 0.00005
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.987C>T (p.Ala329=) rs142665931 0.00004
NM_001323289.2(CDKL5):c.1730T>C (p.Met577Thr) rs749822712 0.00003
NM_001323289.2(CDKL5):c.2067A>G (p.Pro689=) rs774307489 0.00003
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001323289.2(CDKL5):c.2464C>T (p.Arg822Cys) rs780609419 0.00002
NM_001323289.2(CDKL5):c.1386A>C (p.Glu462Asp) rs748731763 0.00001
NM_001323289.2(CDKL5):c.1579C>T (p.Pro527Ser) rs1275389347 0.00001
NM_001323289.2(CDKL5):c.1684A>G (p.Thr562Ala) rs376341076 0.00001
NM_001323289.2(CDKL5):c.1722G>A (p.Pro574=) rs371603866 0.00001
NM_001323289.2(CDKL5):c.1782T>C (p.Tyr594=) rs768214366 0.00001
NM_001323289.2(CDKL5):c.2653G>A (p.Gly885Arg) rs398123694 0.00001
NM_001323289.2(CDKL5):c.486A>C (p.Glu162Asp) rs758844150 0.00001
NM_001323289.2(CDKL5):c.973A>G (p.Asn325Asp) rs756721244 0.00001
NM_001323289.2(CDKL5):c.1033G>A (p.Asp345Asn)
NM_001323289.2(CDKL5):c.1083T>C (p.Pro361=)
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer) rs1555951954
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter) rs1569219346
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs) rs1555951981
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs) rs786204967
NM_001323289.2(CDKL5):c.134A>G (p.Lys45Arg)
NM_001323289.2(CDKL5):c.146-2A>G
NM_001323289.2(CDKL5):c.1672C>T (p.Arg558Cys)
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter) rs1926301954
NM_001323289.2(CDKL5):c.1994_1995del (p.Lys665fs)
NM_001323289.2(CDKL5):c.2046+3A>G rs751000827
NM_001323289.2(CDKL5):c.205C>T (p.Gln69Ter)
NM_001323289.2(CDKL5):c.2152+1G>A rs1555952732
NM_001323289.2(CDKL5):c.2216del (p.Leu739fs)
NM_001323289.2(CDKL5):c.2387C>G (p.Ser796Cys)
NM_001323289.2(CDKL5):c.2426A>T (p.His809Leu)
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter) rs267608663
NM_001323289.2(CDKL5):c.291C>G (p.Leu97=) rs138125282
NM_001323289.2(CDKL5):c.310C>A (p.Pro104Thr) rs1569213881
NM_001323289.2(CDKL5):c.464-2A>G rs267608480
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile) rs797044858
NM_001323289.2(CDKL5):c.520A>G (p.Thr174Ala)
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp) rs267608493
NM_001323289.2(CDKL5):c.538C>T (p.Pro180Ser)
NM_001323289.2(CDKL5):c.63A>T (p.Glu21Asp)
NM_001323289.2(CDKL5):c.656A>C (p.Gln219Pro) rs786204963
NM_001323289.2(CDKL5):c.666del (p.Ile223fs) rs1569215645
NM_001323289.2(CDKL5):c.678G>A (p.Val226=)
NM_001323289.2(CDKL5):c.689T>A (p.Leu230His) rs1925702601
NM_001323289.2(CDKL5):c.745-2A>G
NM_001323289.2(CDKL5):c.914G>A (p.Arg305His)
NM_001323289.2(CDKL5):c.963C>T (p.Ser321=)

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