ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as pathogenic for X-linked disease

Included ClinVar conditions (311):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000023.11:g.(?_18506933)_(18653564_?)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.2714-3936G>A rs104894930
NM_003159.2(CDKL5):c.2714-3995A>G rs104894929
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+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

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