ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 9 by Department of Developmental Neurology, Medical University of Gdańsk

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.1211C>T (p.Thr404Ile) rs2147539327
NM_001184880.2(PCDH19):c.863_867dup (p.Gln290fs) rs2520988663

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