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 (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000742.3(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000833.4(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_000833.4(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_000833.4(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001242896.1(DEPDC5):c.3696+10C>A rs755463750
NM_001909.4(CTSD):c.827+13T>C rs369602025
NM_002247.3(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_002247.3(KCNMA1):c.3021C>T (p.Thr1007=) rs45527834

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