ClinVar Miner

List of variants reported as likely pathogenic for Epileptic encephalopathy, early infantile, 54

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Total variants: 4
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HGVS dbSNP
46,XX,der(1)(q44,q44).seq[GRCh37/hg19]der(1)(1pter->1q44(+)(244867200)::TCGCC{5}::q44(-)(246816211),q44(-)(2460642{39-40})::CGG...CCC{49}::q44(+)(246569872)->1qter)
NM_031844.3(HNRNPU):c.1230+5G>A rs1553282723
NM_031844.3(HNRNPU):c.401_402del (p.Asp134fs) rs1553283916
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701

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