ClinVar Miner

List of variants reported as uncertain significance for Developmental and epileptic encephalopathy, 54 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_031844.3(HNRNPU):c.1064A>T (p.Asp355Val)	rs1680764764
NM_031844.3(HNRNPU):c.1614+2T>A	rs2527508187
NM_031844.3(HNRNPU):c.1767G>C (p.Gln589His)

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