ClinVar Miner

List of variants in gene combination CDKL5, RS1 reported as likely benign for CDKL5 disorder

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_003159.2(CDKL5):c.2797+8_2797+9delCT rs1555957573
NM_003159.2(CDKL5):c.2841G>A (p.Pro947=) rs368344738
NM_003159.2(CDKL5):c.2933T>G (p.Leu978Arg) rs143243059
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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