ClinVar Miner

List of variants in gene CTSF reported as pathogenic for adolescent-onset epilepsy syndrome

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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NM_003793.4(CTSF):c.1373G>C (p.Gly458Ala) rs397514732
NM_003793.4(CTSF):c.1439C>T (p.Ser480Leu) rs397514733
NM_003793.4(CTSF):c.213+1G>C rs797045136
NM_003793.4(CTSF):c.692A>G (p.Tyr231Cys) rs143889283
NM_003793.4(CTSF):c.843_844del (p.Ala282fs) rs1555058286
NM_003793.4(CTSF):c.954del (p.Ser319fs) rs753084727
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg) rs397514731

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