ClinVar Miner

List of variants reported as pathogenic for Epileptic encephalopathy, infantile or early childhood, 1 by Undiagnosed Diseases Network, NIH

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_000944.5(PPP3CA):c.1308_1311dup (p.Ser438fs) rs1553920379

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