ClinVar Miner

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

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NC_000008.11:g.66178947G>T rs12721510 0.04273
NM_000756.3(CRH):c.-365G>C rs72556399 0.00021
NM_000756.4(CRH):c.89C>G (p.Pro30Arg) rs748404250 0.00013
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His) rs281865068 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_000742.4(CHRNA2):c.836T>A (p.Ile279Asn) rs104894063
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.7(CHRNA4):c.867GCT[3] (p.Leu291dup) rs281865067
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) rs397515407
NM_020822.3(KCNT1):c.2386T>C (p.Tyr796His) rs397515406
NM_020822.3(KCNT1):c.2688G>A (p.Met896Ile) rs797044544

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.