List of variants reported as likely benign for Long QT syndrome by Biesecker Lab/Clinical Genomics Section, National Institutes of Health

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: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	rs72546668	0.00317
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)	rs56157422	0.00217
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)	rs72544141	0.00085
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)	rs199473316	0.00063
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)	rs138776684	0.00061
NM_000238.4(KCNH2):c.2371C>T (p.Arg791Trp)	rs138498207	0.00026
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile)	rs149955375	0.00022
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)	rs45553235	0.00018
NM_000218.3(KCNQ1):c.1831G>A (p.Asp611Asn)	rs147445322	0.00007
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)	rs12720449

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.