ClinVar Miner

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

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435
NM_001134407.3(GRIN2A):c.1983A>G (p.Gln661=)
NM_005045.4(RELN):c.1760A>G (p.Asn587Ser) rs1562940963
NM_006493.2(CLN5):c.35G>T (p.Gly12Val) rs1465531119
NM_018100.4(EFHC1):c.817G>T (p.Val273Leu) rs369926953
NM_018896.5(CACNA1G):c.3315C>A (p.Ser1105Arg) rs1216562585
NM_018941.3(CLN8):c.50A>G (p.Asp17Gly) rs148668081

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