ClinVar Miner

List of variants reported as likely pathogenic for childhood-onset epilepsy syndrome by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (91):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_153033.5(KCTD7):c.280C>T (p.Arg94Trp) rs387907260 0.00001
NM_004408.4(DNM1):c.1335+1638G>A rs747079285
NM_153033.5(KCTD7):c.458G>C (p.Arg153Pro) rs765235486

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