ClinVar Miner

List of variants studied for autosomal dominant nocturnal frontal lobe epilepsy by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_000742.4(CHRNA2):c.937C>T (p.Leu313Phe)
NM_001242896.3(DEPDC5):c.3709del (p.Glu1237fs) rs2092986219
NM_020822.3(KCNT1):c.2126G>A (p.Ser709Asn)
NM_020822.3(KCNT1):c.2798G>A (p.Arg933His) rs1023136319
NM_020822.3(KCNT1):c.2824C>T (p.Leu942Phe)
NM_020822.3(KCNT1):c.2896G>A (p.Ala966Thr)

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