ClinVar Miner

List of variants reported as likely benign for CDKL5 disorder by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_001323289.2(CDKL5):c.145+17A>G rs199814742
NM_003159.2(CDKL5):c.100-7C>T rs752279222
NM_003159.2(CDKL5):c.3003C>T (p.His1001=) rs36022183
NM_003159.2(CDKL5):c.3084G>A (p.Thr1028=) rs139155110

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