ClinVar Miner

List of variants reported as likely benign for cardiac rhythm disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 247
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_001232.4(CASQ2):c.*1123_*1124del rs56839330 0.23414
NM_000335.5(SCN5A):c.*1453dup rs397763929 0.23236
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_005266.6(GJA5):c.-175G>A rs35594137 0.19061
NM_005266.7(GJA5):c.-61A>G rs11552588 0.18395
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_181703.4(GJA5):c.*608C>T rs36005900 0.14728
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_000335.5(SCN5A):c.100C>T (p.Arg34Cys) rs6791924 0.03086
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_006073.4(TRDN):c.1805-5dup rs755375052 0.02440
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_002234.3(KCNA5):c.*800G>A rs4625555 0.02358
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_181703.4(GJA5):c.-27T>C rs2232190 0.01635
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001232.3(CASQ2):c.-206T>C rs112210550 0.01359
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_001035.3(RYR2):c.*1160A>G rs114925843 0.01131
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_002234.4(KCNA5):c.751G>A (p.Ala251Thr) rs12720442 0.01115
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_017636.4(TRPM4):c.322C>T (p.Arg108Cys) rs115335683 0.01074
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_017636.4(TRPM4):c.448+6C>T rs78051297 0.01005
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_001035.3(RYR2):c.*787C>A rs143228973 0.00997
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_002234.4(KCNA5):c.*543G>C rs80304472 0.00942
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_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_017636.4(TRPM4):c.2953+15G>A rs115274216 0.00850
NM_000218.3(KCNQ1):c.*975C>T rs74048340 0.00794
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) rs144544237 0.00790
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_181703.4(GJA5):c.369C>T (p.Tyr123=) rs2232191 0.00582
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_000335.5(SCN5A):c.*1496T>G rs41313015 0.00573
NM_172201.2(KCNE2):c.-52G>A rs41314699 0.00570
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
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_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_002234.4(KCNA5):c.1150G>A (p.Gly384Arg) rs76708779 0.00450
NM_002234.4(KCNA5):c.1497G>A (p.Leu499=) rs17221805 0.00450
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_002234.4(KCNA5):c.929C>T (p.Pro310Leu) rs17215402 0.00439
NM_000218.3(KCNQ1):c.*464G>A rs141960532 0.00438
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_017636.4(TRPM4):c.1682A>C (p.Asp561Ala) rs56355369 0.00373
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_017636.4(TRPM4):c.449-14C>T rs112328642 0.00356
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000218.3(KCNQ1):c.*731G>A rs146324627 0.00335
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027 0.00249
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_017636.4(TRPM4):c.3427A>G (p.Ser1143Gly) rs138603244 0.00198
NM_000335.5(SCN5A):c.*677G>A rs45458203 0.00177
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_000335.5(SCN5A):c.6013C>G (p.Pro2005Ala) rs45489199 0.00109
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_000335.5(SCN5A):c.*1390A>G rs41310753 0.00074
NM_000335.5(SCN5A):c.3266C>T (p.Pro1089Leu) rs1805125 0.00071
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_000335.5(SCN5A):c.*1414G>C rs74954894 0.00054
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_000218.3(KCNQ1):c.*241G>A rs142023323 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645 0.00042
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_001035.3(RYR2):c.12919C>T (p.Arg4307Cys) rs200092869 0.00038
NM_001035.3(RYR2):c.*399A>G rs184537159 0.00035
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00028
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_001035.3(RYR2):c.*1108A>G rs540171235 0.00026
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.13137C>A (p.Ile4379=) rs369917806 0.00021
NM_001035.3(RYR2):c.577-14G>A rs148019277 0.00021
NM_001035.3(RYR2):c.14220C>T (p.Ala4740=) rs368971586 0.00020
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001035.3(RYR2):c.5294C>G (p.Ser1765Cys) rs564806219 0.00018
NM_001035.3(RYR2):c.10962A>C (p.Glu3654Asp) rs547005691 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001035.3(RYR2):c.4445G>A (p.Arg1482His) rs373024059 0.00016
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.-2C>T rs144760658 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_002234.4(KCNA5):c.180G>A (p.Ala60=) rs376660949 0.00013
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001035.3(RYR2):c.3598+13T>C rs145104355 0.00009
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_017636.4(TRPM4):c.878A>G (p.Gln293Arg) rs172147855 0.00004
NM_001035.3(RYR2):c.1789A>G (p.Ile597Val) rs770408945 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001035.3(RYR2):c.10517G>A (p.Arg3506Gln) rs748805290 0.00002
NM_000218.3(KCNQ1):c.*806C>T rs539398869 0.00001
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000335.5(SCN5A):c.6000C>T (p.Leu2000=) rs538707712 0.00001
NM_001035.3(RYR2):c.12315C>T (p.Leu4105=) rs184625125 0.00001
NM_001035.3(RYR2):c.12627G>A (p.Ser4209=) rs3753631 0.00001
NM_001035.3(RYR2):c.13220G>A (p.Ser4407Asn) rs755585430 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.3729A>C (p.Thr1243=) rs536080941 0.00001
NM_001035.3(RYR2):c.9927A>G (p.Lys3309=) rs184937795 0.00001
NM_001035.3(RYR2):c.9995C>T (p.Thr3332Met) rs774437805 0.00001
NM_181703.4(GJA5):c.*1396G>A rs886045242 0.00001
NM_000218.3(KCNQ1):c.*377del rs762386874
NM_000218.3(KCNQ1):c.*632C>T rs568824453
NM_000218.3(KCNQ1):c.*889AAT[1] rs546360517
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000335.5(SCN5A):c.*2139_*2145AGG[2]GGAGAAGAGAGTAGGAAAAAGGAGGG[1] rs45592631
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_001035.3(RYR2):c.*646del rs377407067
NM_001035.3(RYR2):c.*890_*893dup rs10667874
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3766C>A (p.Pro1256Thr) rs769729405
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001232.4(CASQ2):c.*1017del rs11347859
NM_002234.4(KCNA5):c.229C>T (p.Pro77Ser) rs202083721
NM_005266.6(GJA5):c.-152G= rs791286
NM_017636.4(TRPM4):c.243G>A (p.Thr81=) rs375928899
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_138959.3(VANGL1):c.*5633T>G rs4348723
NM_138959.3(VANGL1):c.*6763dup rs5777244
NM_181703.4(GJA5):c.*617TGGTATGTACCTCTGGCAAATGCCC[3] rs11267274

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