ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 66 by New York Genome Center

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.1072C>T (p.Arg358Trp) rs1488845742 0.00004
NM_001100913.3(PACS2):c.2647G>A (p.Ala883Thr) rs367840030 0.00003
NM_001100913.3(PACS2):c.2263G>A (p.Val755Ile) rs781913910 0.00001
NM_001100913.3(PACS2):c.452A>G (p.Gln151Arg) rs782108001 0.00001
NM_001100913.3(PACS2):c.827C>T (p.Ala276Val) rs377732984 0.00001
NM_001100913.3(PACS2):c.2315C>G (p.Pro772Arg) rs1555415243

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