ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 2 by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.1094G>C (p.Ser365Thr) rs1279388510
NM_001323289.2(CDKL5):c.173T>A (p.Leu58Ter) rs875989950
NM_001323289.2(CDKL5):c.2452_2459del (p.Pro818fs) rs1555954737

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