ClinVar Miner

List of variants studied for developmental and epileptic encephalopathy by Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement, Assistance Publique Hopitaux de Paris

Included ClinVar conditions (219):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000834.5(GRIN2B):c.1966C>T (p.Gln656Ter) rs1135401799
NM_001040142.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_001165963.4(SCN1A):c.5726C>T (p.Thr1909Ile) rs121918793
NM_001330260.2(SCN8A):c.4394A>T (p.Asp1465Val) rs1135401806
NM_001353921.2(ARHGEF9):c.886C>T (p.Arg296Ter) rs1135401795
NM_031844.3(HNRNPU):c.16delinsATT (p.Val6fs) rs1135401794

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