ClinVar Miner

List of variants reported as 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: 11
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NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu) rs112812685
NM_000744.6(CHRNA4):c.1758+14A>G rs3827020
NM_000744.6(CHRNA4):c.189C>T (p.Leu63=) rs2273506
NM_001909.5(CTSD):c.1072-7G>A rs149019571
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377
NM_001909.5(CTSD):c.353-12C>T rs141523461
NM_001909.5(CTSD):c.844G>A (p.Gly282Arg) rs147278302
NM_152778.3(MFSD8):c.1351-9C>T rs75039907
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673

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