List of variants reported as likely benign for Jervell and Lange-Nielsen syndrome by Illumina Laboratory Services, Illumina

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1393+22646C>G	rs146407692	0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T	rs72847701	0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T	rs72850203	0.00923
NM_000219.6(KCNE1):c.1226_1229del	rs551512090	0.00693
NM_000218.3(KCNQ1):c.1514+4974G>A	rs188083723	0.00530
NC_000021.9:g.34512278T>C	rs76210431	0.00186
NM_000218.3(KCNQ1):c.478-8C>T	rs150711844	0.00150
NM_000218.3(KCNQ1):c.*241G>A	rs142023323	0.00048
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)	rs200670744	0.00005
NM_000218.3(KCNQ1):c.*377del	rs762386874
NM_000218.3(KCNQ1):c.*889AAT[1]	rs546360517
NM_000219.6(KCNE1):c.*946del	rs142762112

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.