ClinVar Miner

List of variants in gene CDKL5, RS1 studied for X-linked disease

Included ClinVar conditions (311):
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Gene type:
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Total variants: 51
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HGVS dbSNP
NC_000023.11:g.(?_18506933)_(18653564_?)del
NC_000023.11:g.(?_18564457)_(18653564_?)dup
NC_000023.11:g.(?_18653412)_(18653564_?)del
NM_000330.4(RS1):c.184+3119G>A
NM_000330.4(RS1):c.184+3170G>A
NM_000330.4(RS1):c.326+1093_326+1094del rs1555957573
NM_000330.4(RS1):c.326+1151T>C
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.2714-1404G>A rs199469696
NM_003159.2(CDKL5):c.2714-1477C>T rs61752159
NM_003159.2(CDKL5):c.2714-1553G>T rs1057516744
NM_003159.2(CDKL5):c.2714-1578C>T rs281865348
NM_003159.2(CDKL5):c.2714-3902G>A rs61753174
NM_003159.2(CDKL5):c.2714-3918C>T rs281865355
NM_003159.2(CDKL5):c.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3953G>A rs281865361
NM_003159.2(CDKL5):c.2714-3995A>G rs104894929
NM_003159.2(CDKL5):c.2714-4001A>G rs1057517433
NM_003159.2(CDKL5):c.2714-47C>T rs786204995
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.2767C>T (p.Arg923Cys) rs267608664
NM_003159.2(CDKL5):c.2783C>T (p.Thr928Met) rs951430019
NM_003159.2(CDKL5):c.2784G>A (p.Thr928=) rs369383134
NM_003159.2(CDKL5):c.2797+1102C>G rs104894934
NM_003159.2(CDKL5):c.2797+1122C>T rs61752068
NM_003159.2(CDKL5):c.2797+1123G>A rs61752067
NM_003159.2(CDKL5):c.2797+1141A>G rs61752063
NM_003159.2(CDKL5):c.2797+1161T>C rs61752060
NM_003159.2(CDKL5):c.2797+1206C>A rs104894933
NM_003159.2(CDKL5):c.2797+1211C>G rs104894932
NM_003159.2(CDKL5):c.2797+1213C>T rs104894928
NM_003159.2(CDKL5):c.2797+1219C>T rs62645894
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.2896G>A (p.Val966Ile) rs747799506
NM_003159.2(CDKL5):c.2908C>T (p.Arg970Ter) rs267608665
NM_003159.2(CDKL5):c.2909G>A (p.Arg970Gln) rs570887192
NM_003159.2(CDKL5):c.2927C>T (p.Pro976Leu) rs587783161
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.3059C>A (p.Thr1020Lys) rs757994307
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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