ClinVar Miner

List of variants reported as likely pathogenic for infancy electroclinical syndrome by Diagnostic Genetics, Severance Hospital, Yonsei University College of Medicine

Included ClinVar conditions (46):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu) rs587783157 0.00001
NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)
NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)

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