ClinVar Miner

List of variants in gene CDKL5, RS1 studied for CDKL5 disorder

Included ClinVar conditions (2):
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Total variants: 21
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HGVS dbSNP
NC_000023.10:g.(?_18525053)_(18671684_?)del
NM_003159.2(CDKL5):c.-162-?_*85del
NM_003159.2(CDKL5):c.146-?_*85del
NM_003159.2(CDKL5):c.2377-?_*85del
NM_003159.2(CDKL5):c.2497-?_*85del
NM_003159.2(CDKL5):c.2716G>A (p.Gly906Ser) rs369009993
NM_003159.2(CDKL5):c.2739G>C (p.Gln913His) rs587783160
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2797+8_2797+9del rs1555957573
NM_003159.2(CDKL5):c.2820C>A (p.Asp940Glu) rs587783403
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2854C>T (p.Arg952Ter) rs202153551
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003159.2(CDKL5):c.2941C>G (p.Arg981Gly) rs374054249
NM_003159.2(CDKL5):c.2980G>A (p.Gly994Arg) rs866859766
NM_003159.2(CDKL5):c.2994C>T (p.Phe998=) rs150900695
NM_003159.2(CDKL5):c.2995G>A (p.Val999Met) rs35693326
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3037_3046del (p.Val1013fs)
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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