ClinVar Miner

List of variants studied for short QT syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000891.3(KCNJ2):c.*2753T>C rs1391769255 0.03695
NM_000891.3(KCNJ2):c.*2759T>C rs906331617 0.03578
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_000891.3(KCNJ2):c.*2754T>C rs9915769 0.02225
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000218.3(KCNQ1):c.1393+22646C>G rs146407692 0.00925
NM_000218.3(KCNQ1):c.1393+21526C>T rs72847701 0.00923
NM_000218.3(KCNQ1):c.1393+21538C>T rs72850203 0.00923
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000218.3(KCNQ1):c.1514+4974G>A rs188083723 0.00530
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_000218.3(KCNQ1):c.*717T>G rs189162344 0.00329
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000891.3(KCNJ2):c.*2483G>A rs559751598 0.00158
NM_000218.3(KCNQ1):c.*837G>A rs139633955 0.00155
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_000218.3(KCNQ1):c.*904T>C rs186055804 0.00125
NM_000218.3(KCNQ1):c.*1025G>C rs181226788 0.00091
NM_000891.3(KCNJ2):c.*2277C>T rs185701493 0.00071
NM_000891.3(KCNJ2):c.*1794C>A rs55864879 0.00067
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000218.3(KCNQ1):c.*241G>A rs142023323 0.00048
NM_000218.3(KCNQ1):c.*391G>A rs774059974 0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_000218.3(KCNQ1):c.-55G>C rs562468879 0.00030
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00026
NM_000218.3(KCNQ1):c.1355G>A (p.Arg452Gln) rs145229963 0.00025
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_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000218.3(KCNQ1):c.567G>T (p.Gly189=) rs200669271 0.00014
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_000218.3(KCNQ1):c.820A>G (p.Ile274Val) rs199472728 0.00013
NM_000891.3(KCNJ2):c.*2887T>G rs770284843 0.00013
NM_000891.3(KCNJ2):c.-2C>T rs144760658 0.00013
NM_000218.3(KCNQ1):c.*266G>A rs113029000 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_000218.3(KCNQ1):c.*392A>C rs868129989 0.00010
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.867C>T (p.Asn289=) rs201909993 0.00010
NM_000218.3(KCNQ1):c.1152C>T (p.Ala384=) rs144615901 0.00009
NM_000891.3(KCNJ2):c.-195C>G rs544342049 0.00009
NM_000218.3(KCNQ1):c.387-7C>T rs201682200 0.00008
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_000218.3(KCNQ1):c.*1055C>T rs375155898 0.00007
NM_000891.3(KCNJ2):c.*2616A>G rs542407766 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000218.3(KCNQ1):c.*897G>T rs561861522 0.00006
NM_000218.3(KCNQ1):c.900A>C (p.Ala300=) rs727504769 0.00006
NM_000891.3(KCNJ2):c.*2065A>G rs778894111 0.00006
NM_000891.3(KCNJ2):c.*3353C>T rs886053346 0.00006
NM_000218.3(KCNQ1):c.*581T>C rs765566577 0.00005
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000218.3(KCNQ1):c.1903G>A (p.Gly635Arg) rs199473484 0.00005
NM_000218.3(KCNQ1):c.780+12G>A rs200796314 0.00005
NM_000218.3(KCNQ1):c.868G>A (p.Glu290Lys) rs199473464 0.00005
NM_000891.3(KCNJ2):c.*709A>G rs950748341 0.00005
NM_000218.3(KCNQ1):c.*240C>T rs773743391 0.00004
NM_000218.3(KCNQ1):c.*554T>G rs886048172 0.00004
NM_000218.3(KCNQ1):c.*712G>A rs745447199 0.00004
NM_000218.3(KCNQ1):c.*730C>T rs930321240 0.00004
NM_000218.3(KCNQ1):c.-38C>T rs886048160 0.00004
NM_000218.3(KCNQ1):c.41G>T (p.Arg14Leu) rs1424013094 0.00004
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_000218.3(KCNQ1):c.*171G>A rs886048168 0.00003
NM_000218.3(KCNQ1):c.*66C>T rs994976684 0.00003
NM_000218.3(KCNQ1):c.1375G>A (p.Asp459Asn) rs747704276 0.00003
NM_000218.3(KCNQ1):c.1514+3G>A rs374767819 0.00003
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
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_000218.3(KCNQ1):c.*290A>G rs765204255 0.00002
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.531C>T (p.Gly177=) rs544384907 0.00002
NM_000218.3(KCNQ1):c.*295G>A rs1296388392 0.00001
NM_000218.3(KCNQ1):c.*47A>C rs754931159 0.00001
NM_000218.3(KCNQ1):c.*633G>A rs886048173 0.00001
NM_000218.3(KCNQ1):c.*652G>A rs886048174 0.00001
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00001
NM_000218.3(KCNQ1):c.*81C>T rs771815387 0.00001
NM_000218.3(KCNQ1):c.1514+9C>T rs770840921 0.00001
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His) rs199472788 0.00001
NM_000218.3(KCNQ1):c.1794+12C>T rs727505084 0.00001
NM_000218.3(KCNQ1):c.1830C>T (p.Thr610=) rs774101297 0.00001
NM_000218.3(KCNQ1):c.1973C>A (p.Thr658Asn) rs377661455 0.00001
NM_000218.3(KCNQ1):c.514G>A (p.Val172Met) rs199472694 0.00001
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.*572G>T rs566129544 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.1275G>A (p.Ser425=) rs555386610 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_000218.3(KCNQ1):c.*1088G>C rs886048177
NM_000218.3(KCNQ1):c.*125C>T rs1848376672
NM_000218.3(KCNQ1):c.*160C>A rs886048167
NM_000218.3(KCNQ1):c.*26C>A rs886048166
NM_000218.3(KCNQ1):c.*292C>A rs886048169
NM_000218.3(KCNQ1):c.*377del rs762386874
NM_000218.3(KCNQ1):c.*398C>T rs886048170
NM_000218.3(KCNQ1):c.*539G>C rs886048171
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.*877C>G rs763163556
NM_000218.3(KCNQ1):c.*887_*889del rs886048175
NM_000218.3(KCNQ1):c.*889AAT[1] rs546360517
NM_000218.3(KCNQ1):c.-69G>A rs886048159
NM_000218.3(KCNQ1):c.1251+13C>T rs201364493
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1343C>T (p.Pro448Leu) rs12720449
NM_000218.3(KCNQ1):c.1394-13A>G rs747187696
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1590+13C>A rs1846544314
NM_000218.3(KCNQ1):c.1855T>A (p.Leu619Met) rs199472819
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.187C>A (p.Pro63Thr) rs1280717988
NM_000218.3(KCNQ1):c.1895G>A (p.Arg632Lys) rs1848365419
NM_000218.3(KCNQ1):c.1979C>A (p.Pro660His) rs886048165
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.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.29C>A (p.Ala10Asp) rs886048161
NM_000218.3(KCNQ1):c.387-12C>T rs1445658296
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.534C>T (p.Ala178=) rs1848319199
NM_000218.3(KCNQ1):c.648C>A (p.Gly216=) rs146350010
NM_000218.3(KCNQ1):c.650C>T (p.Ser217Phe) rs886048163
NM_000218.3(KCNQ1):c.66C>T (p.Gly22=) rs886048162
NM_000218.3(KCNQ1):c.684-15C>G rs752087023
NM_000218.3(KCNQ1):c.781-6G>T rs886048164
NM_000218.3(KCNQ1):c.921+12A>G rs1848365236
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.*1678dup rs145779709
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.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT rs376713253
NM_000891.3(KCNJ2):c.-258C>T rs886053321
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly) rs2074386589
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val) rs886053323

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