List of variants in gene KCNQ1 reported as likely pathogenic by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)	rs12720458	0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln)	rs199472815	0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu)	rs199473456	0.00001
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)	rs199473411
NM_000218.3(KCNQ1):c.1522G>T (p.Glu508Ter)	rs794728530
NM_000218.3(KCNQ1):c.1591-1G>A	rs1590081328
NM_000218.3(KCNQ1):c.1685+2T>G	rs1590081467
NM_000218.3(KCNQ1):c.1686del	rs794728562
NM_000218.3(KCNQ1):c.1780C>T (p.Arg594Ter)	rs794728537
NM_000218.3(KCNQ1):c.403del (p.Val135fs)	rs794728565
NM_000218.3(KCNQ1):c.488del (p.Leu163fs)	rs397508112
NM_000218.3(KCNQ1):c.557G>A (p.Gly186Asp)	rs794728568
NM_000218.3(KCNQ1):c.683+1G>A	rs1589957233
NM_000218.3(KCNQ1):c.826del (p.Ser276fs)	rs786204778

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.