ClinVar Miner

List of variants in gene PACS2 reported as likely pathogenic for Developmental and epileptic encephalopathy, 66

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001100913.3(PACS2):c.598G>A (p.Glu200Lys)	rs1555408385
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)	rs1555408401

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