ClinVar Miner

List of variants reported as risk factor for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
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Total variants: 11
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HGVS dbSNP
NC_000005.10:g.162537506_162537507insTGTTTACTAAACAAAAAGAAAGAGC rs587777363
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_001127644.2(GABRA1):c.655G>A (p.Asp219Asn) rs587777364
NM_001127644.2(GABRA1):c.965C>A (p.Ala322Asp) rs121434579
NM_001127644.2(GABRA1):c.975del (p.Ser326fs) rs1581220270
NM_004366.6(CLCN2):c.1730G>A (p.Arg577Gln) rs137852682
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_014920.4(CILK1):c.1843G>A (p.Ala615Thr) rs55932059
NM_014920.4(CILK1):c.1894C>T (p.Arg632Ter) rs376111440
NM_014920.4(CILK1):c.658A>G (p.Lys220Glu) rs1554169267
NM_014920.4(CILK1):c.914A>C (p.Lys305Thr) rs765078446

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