ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 9 by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001184880.2(PCDH19):c.2480G>A (p.Arg827His) rs371323886 0.00004
NM_001184880.2(PCDH19):c.2920C>T (p.Arg974Trp) rs1365399922 0.00002
NM_001184880.2(PCDH19):c.809A>G (p.Asn270Ser) rs772171727 0.00001
NM_001184880.2(PCDH19):c.1757T>C (p.Leu586Pro)
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter) rs756414485

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