ClinVar Miner

List of variants in gene CHRNA4, LOC100130587 studied for adolescent-onset epilepsy syndrome

Included ClinVar conditions (88):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_000744.6(CHRNA4):c.39G>A (p.Pro13=) rs1158391765
NM_000744.7(CHRNA4):c.13G>A (p.Gly5Ser)
NM_000744.7(CHRNA4):c.14del (p.Gly5fs)
NM_000744.7(CHRNA4):c.16C>A (p.Pro6Thr) rs796052312
NM_000744.7(CHRNA4):c.17C>T (p.Pro6Leu) rs1238575890
NM_000744.7(CHRNA4):c.20G>C (p.Gly7Ala) rs1025632281
NM_000744.7(CHRNA4):c.24G>C (p.Ala8=) rs6089898
NM_000744.7(CHRNA4):c.29_43dup (p.Arg10_Pro14dup) rs777630161
NM_000744.7(CHRNA4):c.35T>C (p.Leu12Pro) rs1060503516
NM_000744.7(CHRNA4):c.38C>G (p.Pro13Arg) rs796052313
NM_000744.7(CHRNA4):c.38_49dup (p.Pro13_Leu16dup) rs1064794327
NM_000744.7(CHRNA4):c.38_52dup (p.Pro13_Leu17dup) rs771936944
NM_000744.7(CHRNA4):c.41C>T (p.Pro14Leu) rs761934698
NM_000744.7(CHRNA4):c.42G>A (p.Pro14=) rs565990502
NM_000744.7(CHRNA4):c.51G>A (p.Leu17=) rs79739740
NM_000744.7(CHRNA4):c.52_57dup (p.Leu18_Leu19dup)
NM_000744.7(CHRNA4):c.9A>G (p.Leu3=) rs80075498

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.