List of variants reported as uncertain significance for autosomal dominant nocturnal frontal lobe epilepsy by Baylor Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000744.7(CHRNA4):c.1106G>A (p.Arg369Gln)	rs200007766	0.00007
NM_020822.3(KCNT1):c.880C>T (p.Arg294Trp)	rs369101729	0.00003
NM_000748.3(CHRNB2):c.734del (p.Cys245fs)	rs780184576	0.00002
NM_000744.7(CHRNA4):c.1029G>C (p.Trp343Cys)	rs1234808455	0.00001
NM_000744.7(CHRNA4):c.1495G>A (p.Ala499Thr)	rs150336658	0.00001
NM_000744.7(CHRNA4):c.1741G>A (p.Glu581Lys)	rs752289948	0.00001
NM_020822.3(KCNT1):c.2728C>T (p.Arg910Trp)	rs1249219901	0.00001
NM_000742.4(CHRNA2):c.121del (p.Leu41fs)	rs796052310
NM_000742.4(CHRNA2):c.1478G>A (p.Trp493Ter)	rs374449470
NM_000744.7(CHRNA4):c.1075A>G (p.Lys359Glu)	rs1555837732
NM_000744.7(CHRNA4):c.1418G>A (p.Ser473Asn)	rs2068560302
NM_000744.7(CHRNA4):c.198C>A (p.Phe66Leu)	rs201018244
NM_000744.7(CHRNA4):c.682G>A (p.Glu228Lys)	rs1064795157
NM_020822.3(KCNT1):c.1769+6G>A	rs927454585
NM_020822.3(KCNT1):c.3046G>T (p.Asp1016Tyr)	rs779908455
NM_020822.3(KCNT1):c.980C>T (p.Ser327Leu)	rs1340962392

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.