List of variants in gene CHRNB2, LOC129931511 studied for autosomal dominant nocturnal frontal lobe epilepsy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 19

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000748.3(CHRNB2):c.30G>A (p.Leu10=)	rs1403853764	0.00003
NM_000748.3(CHRNB2):c.22G>T (p.Val8Leu)	rs772815972	0.00001
NM_000748.3(CHRNB2):c.10C>A (p.Arg4Ser)
NM_000748.3(CHRNB2):c.12C>G (p.Arg4=)
NM_000748.3(CHRNB2):c.13T>C (p.Cys5Arg)
NM_000748.3(CHRNB2):c.13T>G (p.Cys5Gly)	rs1261047629
NM_000748.3(CHRNB2):c.14G>C (p.Cys5Ser)	rs2149365741
NM_000748.3(CHRNB2):c.16_31dup (p.Leu11fs)
NM_000748.3(CHRNB2):c.17G>A (p.Gly6Asp)	rs1304588530
NM_000748.3(CHRNB2):c.1A>G (p.Met1Val)
NM_000748.3(CHRNB2):c.1A>T (p.Met1Leu)	rs2149365728
NM_000748.3(CHRNB2):c.21C>G (p.Pro7=)	rs769654213
NM_000748.3(CHRNB2):c.21del (p.Val8fs)	rs2149365744
NM_000748.3(CHRNB2):c.22G>C (p.Val8Leu)	rs772815972
NM_000748.3(CHRNB2):c.27G>T (p.Ala9=)
NM_000748.3(CHRNB2):c.2T>A (p.Met1Lys)	rs1430279652
NM_000748.3(CHRNB2):c.33C>G (p.Leu11=)	rs927757182
NM_000748.3(CHRNB2):c.33C>T (p.Leu11=)	rs927757182
NM_000748.3(CHRNB2):c.4G>T (p.Ala2Ser)	rs2149365730

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.