ClinVar Miner

List of variants reported as benign for congenital anomaly of cardiovascular system by Illumina Laboratory Services, Illumina

Included ClinVar conditions (334):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
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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_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_005159.4(ACTC1):c.*1039G>A rs589759 0.70946
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_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_001106.4(ACVR2B):c.*3090C>T rs11926767 0.60530
NM_001106.4(ACVR2B):c.*4617C>G rs6599205 0.60080
NM_001106.4(ACVR2B):c.*911C>T rs6599204 0.60049
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_005159.4(ACTC1):c.*1682A>G rs533021 0.55143
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_001106.4(ACVR2B):c.*8512A>C rs13072731 0.48169
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_005159.4(ACTC1):c.*2090A>G rs604689 0.46654
NM_018055.5(NODAL):c.*740T>C rs2279253 0.45837
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_001106.4(ACVR2B):c.*2392T>C rs11914389 0.44215
NM_018055.5(NODAL):c.*722G>C rs2279254 0.43411
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_001106.4(ACVR2B):c.*7688G>A rs1058945 0.42327
NM_001106.4(ACVR2B):c.*744T>C rs7642472 0.42268
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_001106.4(ACVR2B):c.*4995C>T rs7433277 0.42110
NM_001106.4(ACVR2B):c.*5002C>T rs2370840 0.38903
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
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_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
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_001106.4(ACVR2B):c.*9319T>A rs77317995 0.22367
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_001148.6(ANK2):c.3893+14G>T rs2272231 0.21141
NM_005159.4(ACTC1):c.*1445C>G rs8037241 0.20984
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_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_003221.3(TFAP2B):c.*4228G>T rs67092917 0.15514
NM_000219.6(KCNE1):c.*132A>G rs41314071 0.15224
NM_000219.6(KCNE1):c.*578T>C rs16991703 0.14679
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617 0.14405
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
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_005159.4(ACTC1):c.*472T>C rs1370155 0.12694
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_005159.5(ACTC1):c.-57T>C rs113178069 0.10580
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_001106.4(ACVR2B):c.*9471C>T rs6802919 0.09331
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_003098.2(SNTA1):c.-255G>C rs57684257 0.08518
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
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_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000219.6(KCNE1):c.*2461A>G rs13050198 0.06850
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
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_000165.5(GJA1):c.*968T>C rs111878880 0.06674
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_001106.4(ACVR2B):c.*5256A>G rs62239941 0.05920
NM_001106.4(ACVR2B):c.*2280A>G rs17037775 0.05902
NM_001106.4(ACVR2B):c.*765G>A rs12636077 0.05884
NM_001106.4(ACVR2B):c.*6948G>A rs62241768 0.05874
NM_001106.4(ACVR2B):c.*501G>C rs61085191 0.05701
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_001106.4(ACVR2B):c.*2900T>C rs62239939 0.05513
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_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_001106.4(ACVR2B):c.*2425G>A rs76799785 0.03558
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_001148.6(ANK2):c.2337C>T (p.Val779=) rs29341 0.03480
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_000219.6(KCNE1):c.*1068A>C rs41314803 0.03124
NM_001148.4(ANK2):c.*7C>T rs35446871 0.03095
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_001106.4(ACVR2B):c.*3316G>A rs6790964 0.02867
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_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
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_000256.3(MYBPC3):c.*236G>A rs11570121 0.01781
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_001106.4(ACVR2B):c.*8141C>A rs114378912 0.01477
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001106.4(ACVR2B):c.*3748G>T rs2169551 0.01409
NM_001106.4(ACVR2B):c.1344+7G>T rs9876823 0.01406
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_001106.4(ACVR2B):c.*7379G>A rs115907825 0.01331
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_018055.5(NODAL):c.*479C>T rs80138796 0.01102
NM_018055.5(NODAL):c.*886G>A rs58468830 0.01100
NM_018055.5(NODAL):c.*404T>C rs77232076 0.01099
NM_018055.5(NODAL):c.*62A>T rs76889088 0.01097
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_001106.4(ACVR2B):c.*87A>G rs78099173 0.01074
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_001106.4(ACVR2B):c.*6173A>C rs76892072 0.00862
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_001106.4(ACVR2B):c.*1957T>G rs115223892 0.00774
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_001106.4(ACVR2B):c.*3127G>A rs139847458 0.00714
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_001106.4(ACVR2B):c.*3956A>G rs77091454 0.00709
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
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_001106.4(ACVR2B):c.*8187G>A rs116523268 0.00605
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_172201.2(KCNE2):c.-52G>A rs41314699 0.00570
NM_001106.4(ACVR2B):c.*476C>T rs79453833 0.00560
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_001106.4(ACVR2B):c.*338C>G rs78458694 0.00515
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_001106.4(ACVR2B):c.*6553G>A rs75944257 0.00499
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_001106.4(ACVR2B):c.*4963T>A rs59630626 0.00437
NM_001106.4(ACVR2B):c.*1042G>A rs541363749 0.00379
NM_001106.4(ACVR2B):c.*2042C>T rs187282638 0.00378
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
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_001106.4(ACVR2B):c.*592C>T rs80046041 0.00349
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_001106.4(ACVR2B):c.*1375C>T rs193122447 0.00318
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001106.4(ACVR2B):c.*204C>T rs183119680 0.00301
NM_001106.4(ACVR2B):c.*394G>A rs115298793 0.00292
NM_000165.5(GJA1):c.*1733C>T rs78394273 0.00282
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_001106.4(ACVR2B):c.*5700A>C rs141178727 0.00261
NM_001106.4(ACVR2B):c.*4218A>G rs146770581 0.00253
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_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_001106.4(ACVR2B):c.*15T>C rs45457192 0.00156
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_001106.4(ACVR2B):c.*8026C>T rs139304868 0.00139
NM_001106.4(ACVR2B):c.*133A>T rs186832239 0.00135
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001106.4(ACVR2B):c.*2005C>T rs573846950 0.00115
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001106.4(ACVR2B):c.*427C>G rs543992989 0.00091
NM_001106.4(ACVR2B):c.*7413T>C rs148351980 0.00091
NM_000238.4(KCNH2):c.*397T>C rs41312081 0.00078
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_001106.4(ACVR2B):c.*483C>T rs189885640 0.00069
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
NM_001106.4(ACVR2B):c.*6156C>T rs184122552 0.00059
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_001106.4(ACVR2B):c.*4423A>G rs184076956 0.00052
NM_000256.3(MYBPC3):c.*113G>T rs117960173 0.00045
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_001106.4(ACVR2B):c.*1429C>T rs188712951 0.00040
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00038
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
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_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_001106.4(ACVR2B):c.*7619C>T rs563606458 0.00021
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000219.6(KCNE1):c.-198C>T rs376688699 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_001106.4(ACVR2B):c.*3334G>T rs557881549 0.00019
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_001106.4(ACVR2B):c.*420A>G rs556691662 0.00017
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_001106.4(ACVR2B):c.*3570A>G rs528466104 0.00014
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_001106.4(ACVR2B):c.*5901C>T rs191838801 0.00011
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
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_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
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_001106.4(ACVR2B):c.*6638C>T rs552937102 0.00004
NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) rs201686292 0.00004
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_001106.4(ACVR2B):c.*3169T>A rs149804558 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_000256.3(MYBPC3):c.*131T>C rs570058149 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
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_001106.4(ACVR2B):c.*1376G>A rs369336725 0.00001
NM_000165.5(GJA1):c.*773dup rs397698276
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_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
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_001106.4(ACVR2B):c.*1041A>C rs7640050
NM_001106.4(ACVR2B):c.*1346_*1347del rs397989264
NM_001106.4(ACVR2B):c.*1891G>C rs541955988
NM_001106.4(ACVR2B):c.*3714G>T rs928813
NM_001106.4(ACVR2B):c.*6388T>G rs7374458
NM_001106.4(ACVR2B):c.*9318dup rs150324551
NM_001451.3(FOXF1):c.*1175_*1176del rs397854726
NM_001451.3(FOXF1):c.*1176del rs397854726
NM_001451.3(FOXF1):c.*472dup rs56130003
NM_003098.3(SNTA1):c.*122G>A rs116151218
NM_003221.4(TFAP2B):c.*912CA[6] rs35649205
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_018055.5(NODAL):c.*356G>A rs556853359

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