List of variants reported as benign for Jervell and Lange-Nielsen syndrome 1

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: 21

Download table as spreadsheet

HGVS	dbSNP
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg)	rs12720449
NM_000218.3(KCNQ1):c.1394-14C>T	rs28730758
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=)	rs17215465
NM_000218.3(KCNQ1):c.1590+14T>C	rs11024034
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=)	rs1057128
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile)	rs34150427
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter)	rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=)	rs11601907
NM_000218.3(KCNQ1):c.477+9C>T	rs28730664
NM_000218.3(KCNQ1):c.478-10G>A	rs28730752
NM_181798.1(KCNQ1):c.*219G>A	rs45477500
NM_181798.1(KCNQ1):c.*264T>C	rs45579540
NM_181798.1(KCNQ1):c.*305A>C	rs45570140
NM_181798.1(KCNQ1):c.*350G>A	rs114877430
NM_181798.1(KCNQ1):c.*411C>T	rs45460605
NM_181798.1(KCNQ1):c.*479G>A	rs2519184
NM_181798.1(KCNQ1):c.*482G>A	rs45510192
NM_181798.1(KCNQ1):c.*742G>A	rs114844136
NM_181798.1(KCNQ1):c.*875A>G	rs8234
NM_181798.1(KCNQ1):c.*932A>G	rs10798
NM_181798.1(KCNQ1):c.1563C>T (p.Val521=)	rs201698592

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.