List of variants in gene CHRNA4 reported as benign 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 47

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000744.7(CHRNA4):c.1227T>C (p.Cys409=)	rs2229960	0.86626
NM_000744.7(CHRNA4):c.678T>C (p.Cys226=)	rs1044394	0.80763
NM_000744.7(CHRNA4):c.639T>C (p.Asp213=)	rs1044393	0.78554
NM_000744.7(CHRNA4):c.*534C>T	rs2236196	0.62804
NM_000744.7(CHRNA4):c.1659G>A (p.Ala553=)	rs1044397	0.40957
NM_000744.7(CHRNA4):c.1629C>T (p.Ser543=)	rs1044396	0.40465
NM_000744.7(CHRNA4):c.1758+14A>G	rs3827020	0.19637
NM_000744.7(CHRNA4):c.189C>T (p.Leu63=)	rs2273506	0.09394
NM_000744.7(CHRNA4):c.1758+11C>T	rs45442394	0.04350
NM_000744.7(CHRNA4):c.1759-14G>A	rs45440192	0.01788
NM_000744.7(CHRNA4):c.384-11T>G	rs201015514	0.00395
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu)	rs55915440	0.00278
NM_000744.7(CHRNA4):c.1401C>T (p.Ser467=)	rs45569837	0.00255
NM_000744.7(CHRNA4):c.1353G>A (p.Pro451=)	rs113168860	0.00210
NM_000744.7(CHRNA4):c.1143C>T (p.Ala381=)	rs75221202	0.00208
NM_000744.7(CHRNA4):c.1047G>A (p.Leu349=)	rs75593857	0.00192
NM_000744.7(CHRNA4):c.1662G>A (p.Pro554=)	rs121912284	0.00155
NM_000744.7(CHRNA4):c.1758+16G>A	rs113109615	0.00148
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln)	rs121912280	0.00143
NM_000744.7(CHRNA4):c.77-4G>A	rs201123897	0.00133
NM_000744.7(CHRNA4):c.978C>T (p.Phe326=)	rs76270730	0.00122
NM_000744.7(CHRNA4):c.1524C>T (p.Gly508=)	rs56069517	0.00116
NM_000744.7(CHRNA4):c.384-18C>T	rs200407438	0.00084
NM_000744.7(CHRNA4):c.1053C>T (p.Ile351=)	rs61737042	0.00082
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=)	rs56142348	0.00066
NM_000744.7(CHRNA4):c.876C>T (p.Ile292=)	rs139694653	0.00050
NM_000744.7(CHRNA4):c.402G>A (p.Ala134=)	rs201488442	0.00049
NM_000744.7(CHRNA4):c.1431G>A (p.Ala477=)	rs80307076	0.00040
NM_000744.7(CHRNA4):c.1550C>T (p.Ser517Leu)	rs45622132	0.00031
NM_000744.7(CHRNA4):c.462G>A (p.Pro154=)	rs121912245	0.00030
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=)	rs142646795	0.00027
NM_000744.7(CHRNA4):c.1665C>T (p.Pro555=)	rs199829902	0.00026
NM_000744.7(CHRNA4):c.126G>A (p.Lys42=)	rs149588336	0.00022
NM_000744.7(CHRNA4):c.1448G>A (p.Arg483Gln)	rs55855125	0.00016
NM_000744.7(CHRNA4):c.384-17G>A	rs200449795	0.00014
NM_000744.7(CHRNA4):c.1373C>T (p.Pro458Leu)	rs121912277	0.00013
NM_000744.7(CHRNA4):c.492C>T (p.Asp164=)	rs200259564	0.00012
NM_000744.7(CHRNA4):c.948C>T (p.Phe316=)	rs121912259	0.00011
NM_000744.7(CHRNA4):c.711C>T (p.Phe237=)	rs144446511	0.00006
NM_000744.7(CHRNA4):c.828G>A (p.Thr276=)	rs2234932	0.00004
NM_000744.7(CHRNA4):c.807C>T (p.Ser269=)	rs201335931	0.00003
NM_000744.7(CHRNA4):c.1007G>A (p.Arg336His)	rs281865068	0.00001
NM_000744.7(CHRNA4):c.1010C>T (p.Thr337Met)	rs201673381	0.00001
NM_000744.7(CHRNA4):c.1158C>G (p.Pro386=)	rs45564639
NM_000744.7(CHRNA4):c.1209G>T (p.Pro403=)	rs2229959
NM_000744.7(CHRNA4):c.1740C>T (p.Ala580=)	rs377071784
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=)	rs45588436

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.