ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000086.2(CLN3):c.371_372insT (p.Ser125fs) rs587779397
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_001909.5(CTSD):c.470C>T (p.Ser157Leu) rs587779409
NM_018941.3(CLN8):c.792C>G (p.Asn264Lys) rs587779411

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