ClinVar Miner

List of variants reported as benign for long QT syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 193
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HGVS dbSNP gnomAD frequency
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584 0.98759
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000890.5(KCNJ5):c.*410C>T rs2846675 0.84898
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833 0.84299
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_000890.5(KCNJ5):c.*928C>T rs7925056 0.82830
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_000890.5(KCNJ5):c.938-10G>A rs4937391 0.74403
NM_000890.5(KCNJ5):c.*804G>T rs2604204 0.74160
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_000219.6(KCNE1):c.*2529C>T rs2834485 0.69189
NM_000890.5(KCNJ5):c.*1063G>A rs2846696 0.68788
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_000219.6(KCNE1):c.*2480A>G rs3453 0.48112
NM_000219.6(KCNE1):c.*456C>T rs2070356 0.48073
NM_000890.5(KCNJ5):c.*1338del rs144472942 0.47522
NM_000219.6(KCNE1):c.*124A>G rs2070357 0.44827
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_001148.6(ANK2):c.11673T>C (p.His3891=) rs2293324 0.30277
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=) rs3733615 0.27889
NM_000890.5(KCNJ5):c.*1338C>A rs6590358 0.27661
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_001148.6(ANK2):c.3579C>T (p.Arg1193=) rs3736575 0.23645
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_001148.6(ANK2):c.3893+14G>T rs2272231 0.21141
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_000219.6(KCNE1):c.-252G>A rs2834502 0.19962
NM_000890.5(KCNJ5):c.*779G>T rs4373934 0.19421
NM_000890.5(KCNJ5):c.*1168C>G rs1137937 0.18319
NM_000219.6(KCNE1):c.*490G>C rs41314067 0.16321
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_000219.6(KCNE1):c.*132A>G rs41314071 0.15224
NM_000219.6(KCNE1):c.*578T>C rs16991703 0.14679
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617 0.14405
NM_000219.6(KCNE1):c.*1322A>G rs11700621 0.13749
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=) rs10013743 0.12780
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_001148.6(ANK2):c.6168C>G (p.Leu2056=) rs3796928 0.11246
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_003098.2(SNTA1):c.-255G>C rs57684257 0.08518
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001148.6(ANK2):c.*908A>G rs11550170 0.07744
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=) rs33966911 0.07670
NM_172201.2(KCNE2):c.-79G>A rs41260744 0.07525
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000219.6(KCNE1):c.*2461A>G rs13050198 0.06850
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_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000890.5(KCNJ5):c.*976G>A rs7102315 0.06508
NM_000890.5(KCNJ5):c.*528C>T rs3867250 0.06451
NM_000890.5(KCNJ5):c.937+7C>T rs45516097 0.06448
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_001148.6(ANK2):c.2337C>T (p.Val779=) rs29341 0.03480
NM_000219.6(KCNE1):c.*1068A>C rs41314803 0.03124
NM_001148.4(ANK2):c.*7C>T rs35446871 0.03095
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
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_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_003098.3(SNTA1):c.*343G>A rs41305789 0.02092
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_000219.6(KCNE1):c.*2103C>T rs41312367 0.01957
NM_003098.3(SNTA1):c.-96G>A rs145471317 0.01822
NM_000219.6(KCNE1):c.*2098T>C rs41312993 0.01820
NM_000219.6(KCNE1):c.-375A>G rs41315349 0.01784
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) rs61734477 0.01587
NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) rs61734478 0.01567
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) rs41314375 0.01398
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_001148.6(ANK2):c.3893+10T>C rs72556367 0.01042
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_003098.3(SNTA1):c.828G>A (p.Lys276=) rs35938843 0.00969
NM_001148.6(ANK2):c.11790C>T (p.Ile3930=) rs45517840 0.00954
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_003098.3(SNTA1):c.*342C>T rs150740903 0.00900
NM_000219.6(KCNE1):c.-464G>A rs4817670 0.00871
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_001148.6(ANK2):c.*446T>C rs114488000 0.00794
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=) rs145557320 0.00778
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_001148.6(ANK2):c.1881+8C>G rs74976371 0.00612
NM_001148.6(ANK2):c.1995A>G (p.Pro665=) rs45442693 0.00612
NM_001148.6(ANK2):c.1245A>G (p.Glu415=) rs34145832 0.00608
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_172201.2(KCNE2):c.-52G>A rs41314699 0.00570
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 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_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
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.*305A>C rs45570140 0.00133
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_000238.4(KCNH2):c.*397T>C rs41312081 0.00078
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
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_001148.6(ANK2):c.8240G>A (p.Arg2747His) rs142137451 0.00032
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000219.6(KCNE1):c.-198C>T rs376688699 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala) rs747961230 0.00007
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) rs143043717 0.00006
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
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.*2123G>A rs41314793
NM_000238.4(KCNH2):c.*92C>T rs149750773
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*861GTTTT[7] rs36205004
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_003098.3(SNTA1):c.*122G>A rs116151218

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