ClinVar Miner

List of variants reported as likely benign for adolescent-onset epilepsy syndrome by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001242897.2(DEPDC5):c.3396+10C>A rs755463750
NM_001909.5(CTSD):c.827+13T>C rs369602025

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