ClinVar Miner

List of variants studied for CDKL5 disorder by Genomic Research Center,Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001037343.1(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001037343.1(CDKL5):c.2450_2457del (p.Pro818Valfs) rs1555954737
NM_003159.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950

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