ClinVar Miner

List of variants in gene PACS2 studied for Intellectual disability

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001100913.3(PACS2):c.1197T>G (p.Asp399Glu) rs199748488 0.00011
NM_001100913.3(PACS2):c.2144C>T (p.Ser715Leu) rs374373404 0.00005
NM_001100913.3(PACS2):c.2119+5C>A rs782261491 0.00003
NM_001100913.3(PACS2):c.1292G>A (p.Arg431Gln) rs2081009644
NM_001100913.3(PACS2):c.587-4G>C rs782379339
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401

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