ClinVar Miner

List of variants reported as not provided for adolescent-onset epilepsy syndrome by GenomeConnect, ClinGen

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_000391.3(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.902A>C (p.Gln301Pro)
NM_005045.3(RELN):c.1760A>G (p.Asn587Ser)
NM_018100.3(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018896.4(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) rs148668081

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