ClinVar Miner

List of variants studied for Developmental and epileptic encephalopathy, 54 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.1028A>G (p.Lys343Arg) rs2527882286 0.00001
NM_031844.3(HNRNPU):c.1102dup (p.Ser368fs)
NM_031844.3(HNRNPU):c.325G>C (p.Glu109Gln) rs1680930166
NM_031844.3(HNRNPU):c.421G>A (p.Gly141Arg) rs2527895152

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