List of variants reported as likely pathogenic for long QT syndrome by Blueprint Genetics

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: 13

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)	rs77331749	0.00056
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)	rs199472958	0.00003
NM_000238.4(KCNH2):c.1352C>T (p.Pro451Leu)	rs199472902	0.00001
NM_000238.4(KCNH2):c.1402dup (p.Leu468fs)	rs869025448
NM_000238.4(KCNH2):c.1847A>G (p.Tyr616Cys)	rs199472946
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala)	rs199472951
NM_000238.4(KCNH2):c.774dup (p.Asp259fs)	rs869025447
NM_000238.4(KCNH2):c.842dup (p.Ala282fs)	rs730880374
NM_000335.5(SCN5A):c.4844TCT[1] (p.Phe1616del)	rs749697698
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)	rs750835733
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)	rs199473369
NM_004415.4(DSP):c.3799C>T (p.Arg1267Ter)	rs121912997
NM_005751.5(AKAP9):c.1489G>T (p.Glu497Ter)	rs730880043

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.