ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy, 54 by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs) rs779453109
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter) rs869312701
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His) rs756460435

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