ClinVar Miner

List of variants reported as pathogenic for benign familial mesial temporal lobe epilepsy

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_020361.5(CPA6):c.587A>G (p.His196Arg) rs376266840
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009

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