ClinVar Miner

List of variants reported as benign for Jervell-Lange Nielsen syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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_000219.5(KCNE1):c.-577C>T rs11702354
NM_000219.6(KCNE1):c.*1068A>C rs41314803
NM_000219.6(KCNE1):c.*1219A>G rs11909074
NM_000219.6(KCNE1):c.*124A>G rs2070357
NM_000219.6(KCNE1):c.*1322A>G rs11700621
NM_000219.6(KCNE1):c.*132A>G rs41314071
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2098T>C rs41312993
NM_000219.6(KCNE1):c.*2103C>T rs41312367
NM_000219.6(KCNE1):c.*2123G>A
NM_000219.6(KCNE1):c.*2461A>G rs13050198
NM_000219.6(KCNE1):c.*2480A>G rs3453
NM_000219.6(KCNE1):c.*2529C>T rs2834485
NM_000219.6(KCNE1):c.*268C>T rs41314807
NM_000219.6(KCNE1):c.*456C>T rs2070356
NM_000219.6(KCNE1):c.*490G>C rs41314067
NM_000219.6(KCNE1):c.*578T>C rs16991703
NM_000219.6(KCNE1):c.-100T>C rs41314819
NM_000219.6(KCNE1):c.-198C>T
NM_000219.6(KCNE1):c.-252G>A rs2834502
NM_000219.6(KCNE1):c.-253A>G rs41315471
NM_000219.6(KCNE1):c.-375A>G rs41315349
NM_000219.6(KCNE1):c.-464G>A rs4817670
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127
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.1012+28111T>G rs114030398
NM_181798.1(KCNQ1):c.1012+31361T>A rs200391321
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.