List of variants in gene KCNQ1 reported as likely benign for Jervell and Lange-Nielsen syndrome

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: 28

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.*975C>T	rs74048340	0.00794
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser)	rs1800172	0.00760
NM_000218.3(KCNQ1):c.720C>T (p.His240=)	rs28730754	0.00524
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala)	rs28730756	0.00447
NM_000218.3(KCNQ1):c.*464G>A	rs141960532	0.00438
NM_000218.3(KCNQ1):c.*731G>A	rs146324627	0.00335
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=)	rs1800170	0.00158
NM_000218.3(KCNQ1):c.478-8C>T	rs150711844	0.00150
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=)	rs144985256	0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn)	rs12720457	0.00053
NM_000218.3(KCNQ1):c.*241G>A	rs142023323	0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=)	rs554518844	0.00047
NM_000218.3(KCNQ1):c.1794+11G>A	rs186188610	0.00029
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=)	rs1805118	0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=)	rs200669271	0.00014
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=)	rs200670744	0.00005
NM_000218.3(KCNQ1):c.1795-10G>A	rs780067234	0.00002
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=)	rs758960211	0.00002
NM_000218.3(KCNQ1):c.*806C>T	rs539398869	0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=)	rs200418488	0.00001
NM_000218.3(KCNQ1):c.1686-18C>G	rs1846715620	0.00001
NM_000218.3(KCNQ1):c.604+12C>T	rs370821907	0.00001
NM_000218.3(KCNQ1):c.*377del	rs762386874
NM_000218.3(KCNQ1):c.*632C>T	rs568824453
NM_000218.3(KCNQ1):c.*889AAT[1]	rs546360517
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=)	rs112113213
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=)	rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=)	rs139042529

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.