ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001077350.3(NPRL3):c.469G>T (p.Glu157Ter)
NM_001134407.3(GRIN2A):c.4261G>T (p.Asp1421Tyr) rs1567275051
NM_001242897.2(DEPDC5):c.1277_1280del (p.Ala426fs) rs1568963062
NM_001242897.2(DEPDC5):c.2460_2469delinsGGACA (p.Asp820fs) rs1569083500
NM_004366.6(CLCN2):c.415A>C (p.Thr139Pro)
NM_005045.4(RELN):c.4882G>C (p.Val1628Leu) rs1436133395
NM_006545.5(NPRL2):c.233G>T (p.Arg78Leu) rs1559857717

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