ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome by NeuroMeGen, Hospital Clinico Santiago de Compostela

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NC_000022.11:g.(?_32200123)_(32200234_?)del
NM_001134407.3(GRIN2A):c.2069C>T (p.Thr690Met) rs1445802934
NM_004408.4(DNM1):c.442C>A (p.Gln148Lys) rs1554772945
NM_198904.4(GABRG2):c.704G>A (p.Trp235Ter) rs1554098226

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