ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

Included ClinVar conditions (90):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001112741.2(KCNC1):c.1370del (p.Lys457fs) rs1590106815
NM_001271.4(CHD2):c.2636C>T (p.Ala879Val) rs1555442813
NM_001271.4(CHD2):c.2670C>G (p.Asn890Lys)
NM_006545.5(NPRL2):c.445_448+3del rs1575562076
NM_006545.5(NPRL2):c.932+1G>A rs1703621639

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