ClinVar Miner

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

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_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.189C>T (p.Thr63=) rs114051835
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498
NM_001909.5(CTSD):c.827+13T>C rs369602025
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302

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