ClinVar Miner

List of variants reported as uncertain significance for Andersen-Tawil syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000891.3(KCNJ2):c.*2753T>C rs1391769255 0.03695
NM_000891.3(KCNJ2):c.*2759T>C rs906331617 0.03578
NM_000891.3(KCNJ2):c.*2754T>C rs9915769 0.02225
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_000891.3(KCNJ2):c.*3536C>T rs529969829 0.00022
NM_000891.3(KCNJ2):c.*3618A>G rs530574251 0.00022
NM_000891.3(KCNJ2):c.-228C>T rs765064661 0.00022
NM_000891.3(KCNJ2):c.*1128dup rs777658732 0.00014
NM_000891.3(KCNJ2):c.*213G>A rs886053326 0.00014
NM_000891.3(KCNJ2):c.*879C>T rs969533203 0.00014
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.*2875_*2876del rs561353262 0.00010
NM_000891.3(KCNJ2):c.*3409A>G rs551384883 0.00010
NM_000891.3(KCNJ2):c.-195C>G rs544342049 0.00009
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000891.3(KCNJ2):c.*3353C>T rs886053346 0.00006
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000891.3(KCNJ2):c.*1320C>T rs923732685 0.00004
NM_000891.3(KCNJ2):c.*1440A>T rs886053332 0.00004
NM_000891.3(KCNJ2):c.*2508G>A rs913851832 0.00004
NM_000891.3(KCNJ2):c.*2812T>C rs886053344 0.00004
NM_000891.3(KCNJ2):c.-88C>T rs886053322 0.00004
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln) rs766143485 0.00004
NM_000891.3(KCNJ2):c.*122G>A rs886053324 0.00003
NM_000891.3(KCNJ2):c.*124G>A rs886053325 0.00003
NM_000891.3(KCNJ2):c.*2698T>C rs368668294 0.00003
NM_000891.3(KCNJ2):c.*3032A>G rs548485707 0.00003
NM_000891.3(KCNJ2):c.-348G>A rs993406508 0.00003
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu) rs749707062 0.00003
NM_000891.3(KCNJ2):c.*1367T>C rs565257870 0.00002
NM_000891.3(KCNJ2):c.*1702CT[3] rs1555604187 0.00002
NM_000891.3(KCNJ2):c.*2001A>G rs886053336 0.00002
NM_000891.3(KCNJ2):c.*1030C>T rs1310873825 0.00001
NM_000891.3(KCNJ2):c.*1361C>A rs1191660760 0.00001
NM_000891.3(KCNJ2):c.*1412G>A rs886053331 0.00001
NM_000891.3(KCNJ2):c.*3025G>A rs536788614 0.00001
NM_000891.3(KCNJ2):c.*3352T>A rs886053345 0.00001
NM_000891.3(KCNJ2):c.*39C>T rs1196218333 0.00001
NM_000891.3(KCNJ2):c.*687A>C rs886053329 0.00001
NM_000891.3(KCNJ2):c.-361G>C rs984704301 0.00001
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg) rs760459401 0.00001
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys) rs529080615 0.00001
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=) rs376921497 0.00001
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp) rs758092571 0.00001
NM_000891.3(KCNJ2):c.*1226C>G rs749246339
NM_000891.3(KCNJ2):c.*1345G>A rs141156477
NM_000891.3(KCNJ2):c.*1449C>T rs2074403807
NM_000891.3(KCNJ2):c.*1631C>G rs886053333
NM_000891.3(KCNJ2):c.*1646T>C rs2074404964
NM_000891.3(KCNJ2):c.*1702_*1704dup rs1555604193
NM_000891.3(KCNJ2):c.*1702dup rs886053334
NM_000891.3(KCNJ2):c.*1719_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1720_*1721dup rs35753731
NM_000891.3(KCNJ2):c.*1721dup rs35753731
NM_000891.3(KCNJ2):c.*2270G>T rs545863243
NM_000891.3(KCNJ2):c.*2328T>G rs1233305858
NM_000891.3(KCNJ2):c.*2339G>C rs1273347996
NM_000891.3(KCNJ2):c.*2343C>T rs536283660
NM_000891.3(KCNJ2):c.*2370C>T rs2074409675
NM_000891.3(KCNJ2):c.*2526A>G rs886053337
NM_000891.3(KCNJ2):c.*2663T>C rs886053338
NM_000891.3(KCNJ2):c.*2748T>C rs9915768
NM_000891.3(KCNJ2):c.*2770_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2771_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2772_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2774_*2775del rs35656864
NM_000891.3(KCNJ2):c.*2775dup rs35656864
NM_000891.3(KCNJ2):c.*2776del rs886053343
NM_000891.3(KCNJ2):c.*308C>T rs2074395230
NM_000891.3(KCNJ2):c.*3173C>A rs1467380962
NM_000891.3(KCNJ2):c.*324del rs570173316
NM_000891.3(KCNJ2):c.*3391_*3392dup rs552636156
NM_000891.3(KCNJ2):c.*3463del rs3841509
NM_000891.3(KCNJ2):c.*596T>A rs886053328
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT rs376713253
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val) rs886053323

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.