ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.833A>G (p.Gln278Arg) rs796053439
NM_000833.4(GRIN2A):c.4375A>G (p.Ser1459Gly) rs869312681
NM_001014797.2(KCNMA1):c.2684A>G (p.Asn895Ser)

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