ClinVar Miner

List of variants reported as 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: 185
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=) rs2359641 0.98412
NM_001035.3(RYR2):c.6906T>C (p.Leu2302=) rs707189 0.96110
NM_001035.3(RYR2):c.10776C>T (p.Ser3592=) rs2685301 0.95962
NM_001035.3(RYR2):c.10503C>T (p.Thr3501=) rs2797441 0.95950
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_001232.4(CASQ2):c.*632G>C rs1140238 0.65651
NM_001232.4(CASQ2):c.*482C>T rs7521023 0.63558
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_002234.4(KCNA5):c.-167C>T rs3741930 0.43501
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_001035.3(RYR2):c.*1140A>G rs12594 0.28188
NM_002234.4(KCNA5):c.*508A>T rs1056468 0.23863
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_017636.4(TRPM4):c.-12G>A rs3760663 0.20754
NM_001037.5(SCN1B):c.40+15G>T rs72556351 0.19938
NM_001035.3(RYR2):c.*1307C>T rs16835904 0.16356
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_001037.5(SCN1B):c.*86A>C rs2278996 0.14285
NM_001037.5(SCN1B):c.*42T>C rs2278995 0.14069
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_001232.4(CASQ2):c.*138T>C rs28730710 0.10658
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_001232.3(CASQ2):c.-218T>C rs78585518 0.09790
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_172201.2(KCNE2):c.-79G>A rs41260744 0.07525
NM_017636.4(TRPM4):c.2380C>T (p.Leu794=) rs3745301 0.07523
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_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_001037.5(SCN1B):c.*6-11C>G rs28365105 0.05977
NM_017636.4(TRPM4):c.375G>A (p.Ser125=) rs34333830 0.05846
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001035.3(RYR2):c.4684-11C>T rs7546045 0.05719
NM_017636.4(TRPM4):c.2210+11C>G rs1175796 0.05613
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_001232.4(CASQ2):c.-137T>C rs12069574 0.05139
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_017636.4(TRPM4):c.1041G>T (p.Leu347=) rs61732831 0.03220
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) rs1175810 0.03027
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001037.5(SCN1B):c.207+14G>A rs16969924 0.02860
NM_002234.4(KCNA5):c.*736A>T rs66942317 0.02811
NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=) rs35145363 0.02710
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_017636.4(TRPM4):c.267+14C>G rs113040724 0.02235
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_001037.5(SCN1B):c.501T>C (p.Ile167=) rs16969930 0.01942
NM_001035.3(RYR2):c.*56C>A rs74703306 0.01808
NM_001035.3(RYR2):c.*328C>T rs76286925 0.01804
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_001232.4(CASQ2):c.-21G>A rs12067472 0.01521
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_001035.3(RYR2):c.6928+4G>A rs79862521 0.01335
NM_001035.3(RYR2):c.4684-5G>C rs7522981 0.01334
NM_001035.3(RYR2):c.11988C>T (p.Gly3996=) rs56226196 0.01290
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
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_001037.5(SCN1B):c.591-14C>A rs28365109 0.00920
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001037.5(SCN1B):c.*202C>T rs72550275 0.00693
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_001037.5(SCN1B):c.*454C>A rs72550263 0.00642
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001037.5(SCN1B):c.*76G>T rs367768639 0.00605
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_001037.5(SCN1B):c.-95C>T rs569134158 0.00572
NM_001037.5(SCN1B):c.*102A>T rs72550274 0.00564
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001037.5(SCN1B):c.*401G>A rs72550268 0.00514
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
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_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
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_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
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_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001232.4(CASQ2):c.*143G>A rs28730709 0.00217
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001037.5(SCN1B):c.*534C>T rs72550266 0.00195
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.4605G>A (p.Pro1535=) rs201916326 0.00117
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001037.5(SCN1B):c.351C>T (p.Gly117=) rs3746255 0.00082
NM_001035.3(RYR2):c.3030T>C (p.Asp1010=) rs138064129 0.00071
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_001035.3(RYR2):c.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001037.5(SCN1B):c.*377C>T rs376707835 0.00021
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_001037.5(SCN1B):c.-27G>C rs758958222 0.00013
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
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_001035.3(RYR2):c.5614G>A (p.Asp1872Asn) rs761770946 0.00006
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001037.5(SCN1B):c.287G>A (p.Arg96Gln) rs372289648 0.00002
NM_001037.5(SCN1B):c.636G>A (p.Thr212=) rs763715229 0.00002
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.2253T>G (p.Thr751=) rs762905211 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 0.00001
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_001035.3(RYR2):c.*129C>G rs16835891
NM_001035.3(RYR2):c.*714C>G rs12406863
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001037.5(SCN1B):c.*447A>G rs550484951
NM_001037.5(SCN1B):c.*527T>C rs41275828
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=) rs535042320
NM_002234.4(KCNA5):c.92G>T (p.Gly31Val) rs61737395
NM_006073.4(TRDN):c.233-14_233-13del rs66509682

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.