ClinVar Miner

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

Included ClinVar conditions (313):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
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.2714-3953G>A rs281865361
NM_003159.2(CDKL5):c.2714-4001A>G rs1057517433
NM_003159.2(CDKL5):c.2797+1161T>C rs61752060

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