ClinVar Miner

List of variants reported as not provided for autosomal dominant nocturnal frontal lobe epilepsy 1

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000744.7(CHRNA4):c.296G>A (p.Arg99His) rs143103435 0.00021
NM_000744.7(CHRNA4):c.1425C>T (p.Gly475=) rs121912279 0.00003
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_000744.7(CHRNA4):c.348G>C (p.Glu116Asp) rs866334493
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067

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