ClinVar Miner

List of variants reported as benign for familial isolated arrhythmogenic right ventricular dysplasia

Included ClinVar conditions (26):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 773
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HGVS dbSNP gnomAD frequency
NM_004415.4(DSP):c.741= (p.Ala247=) rs2806234 0.99917
NM_001035.3(RYR2):c.10935+18C>T rs2797445 0.98361
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_001035.3(RYR2):c.3423+49A>G rs2805390 0.90629
NM_001035.3(RYR2):c.2973A>G (p.Ser991=) rs2253273 0.84980
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) rs6902416 0.84721
NM_002230.4(JUP):c.909+17T>C rs12942034 0.81403
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2046+22A>G rs7216034 0.77249
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_001005242.3(PKP2):c.2013+45G>A rs10772008 0.73962
NM_001035.3(RYR2):c.11326-23C>T rs2253831 0.73062
NM_001035.3(RYR2):c.2718+26A>G rs2618702 0.71570
NM_001232.4(CASQ2):c.420+6T>C rs9428083 0.71176
NM_002230.4(JUP):c.1774-34C>A rs8067890 0.71145
NM_002230.4(JUP):c.*225T>C rs4627408 0.70932
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_001035.3(RYR2):c.13783-6A>G rs790901 0.66919
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_001035.3(RYR2):c.13913+12A>C rs790900 0.66578
NM_002230.4(JUP):c.-88A>G rs4796702 0.65910
NM_001035.3(RYR2):c.13783-21G>A rs790902 0.64306
NM_001005242.3(PKP2):c.*1431G>A rs1046150 0.62602
NM_001005242.3(PKP2):c.*1196G>A rs1046138 0.61624
NM_001005242.3(PKP2):c.*251C>G rs12612 0.61058
NM_001035.3(RYR2):c.13476+16A>G rs2256242 0.60593
NM_006073.4(TRDN):c.484+1457C>T rs9490795 0.56990
NM_001035.3(RYR2):c.677-11T>A rs10754602 0.53281
NM_001035.3(RYR2):c.1359C>T (p.Ser453=) rs3765097 0.51474
NM_001005242.3(PKP2):c.*812C>T rs9394 0.50975
NM_001943.5(DSG2):c.861C>T (p.Asn287=) rs2230233 0.50779
NM_006073.4(TRDN):c.383C>G (p.Thr128Ser) rs9490809 0.50546
NM_013266.4(CTNNA3):c.1281+18601C>T rs6480209 0.48391
NM_001035.3(RYR2):c.1612+14T>C rs2045955 0.48321
NM_001943.5(DSG2):c.*1866T>C rs1047433 0.48313
NM_001943.5(DSG2):c.3321T>C (p.Val1107=) rs1791235 0.48308
NM_001035.3(RYR2):c.7806C>T (p.His2602=) rs684923 0.47802
NM_013266.4(CTNNA3):c.1787G>A (p.Ser596Asn) rs4548513 0.47526
NM_013266.4(CTNNA3):c.292+13A>G rs3750863 0.45524
NM_006073.4(TRDN):c.2051-19G>A rs7754205 0.42872
NM_001035.3(RYR2):c.6556-41G>A rs10802626 0.39733
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_001035.3(RYR2):c.14091-25G>A rs9428384 0.37110
NM_001035.3(RYR2):c.11963-11T>C rs790889 0.35417
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_001035.3(RYR2):c.13476+47G>A rs16835818 0.34821
NM_001232.4(CASQ2):c.196A>G (p.Thr66Ala) rs4074536 0.34486
NM_001035.3(RYR2):c.464-8A>C rs10925391 0.33866
NM_006073.4(TRDN):c.1186+16C>T rs3813328 0.33405
NM_013266.4(CTNNA3):c.2266-10T>G rs2105702 0.32828
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_001035.3(RYR2):c.*1140A>G rs12594 0.28188
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_004415.4(DSP):c.2091= (p.Gly697=) rs2076304 0.23152
NM_001943.5(DSG2):c.828+16C>A rs3737378 0.22345
NM_001943.5(DSG2):c.2318G>A (p.Arg773Lys) rs2278792 0.22185
NM_001943.5(DSG2):c.*565A>G rs11542765 0.21489
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_013266.4(CTNNA3):c.293-19A>T rs1909654 0.20576
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2357+13_2357+14insC rs149968852 0.19813
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_024422.6(DSC2):c.2326A>G (p.Ile776Val) rs1893963 0.18480
NM_001943.5(DSG2):c.2505A>G (p.Thr835=) rs1042769 0.18278
NM_001005242.3(PKP2):c.2168-21del rs57690055 0.18222
NM_006073.4(TRDN):c.1257C>A (p.Asp419Glu) rs17737379 0.17356
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_006073.4(TRDN):c.1211T>G (p.Val404Gly) rs28494009 0.16504
NM_001035.3(RYR2):c.*1307C>T rs16835904 0.16356
NM_024334.3(TMEM43):c.883-47C>T rs2731320 0.16071
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_001943.5(DSG2):c.*1339G>A rs9304101 0.13688
NM_013266.4(CTNNA3):c.579+15T>G rs10997691 0.12289
NM_024422.6(DSC2):c.111A>G (p.Leu37=) rs12954874 0.10312
NM_001035.3(RYR2):c.849-8T>C rs16835237 0.09863
NM_024422.6(DSC2):c.*579T>C rs59914360 0.09730
NM_006073.4(TRDN):c.1408C>A (p.Leu470Met) rs6569336 0.09024
NM_024422.6(DSC2):c.32A>G (p.Asn11Ser) rs868333 0.08191
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_001035.3(RYR2):c.4684-11C>T rs7546045 0.05719
NM_013266.4(CTNNA3):c.460-13T>C rs7903421 0.05538
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001005242.3(PKP2):c.*1271G>C rs12314796 0.05196
NM_001005242.3(PKP2):c.*1563G>T rs1046154 0.05190
NM_001232.4(CASQ2):c.1194T>C (p.Asp398=) rs28730711 0.04871
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_002230.4(JUP):c.1653+10C>A rs73983658 0.04634
NM_013266.4(CTNNA3):c.1872C>A (p.Val624=) rs10997034 0.04630
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_013266.4(CTNNA3):c.1531+16T>C rs78806593 0.03870
NM_001035.3(RYR2):c.13564-41A>G rs114289907 0.03849
NM_001035.3(RYR2):c.*647C>T rs16835894 0.03547
NM_001035.3(RYR2):c.5400A>G (p.Lys1800=) rs3820216 0.03524
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_006073.4(TRDN):c.1805-6C>T rs201544606 0.03259
NM_006073.4(TRDN):c.1105+5G>A rs41284430 0.03253
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001035.3(RYR2):c.1776A>T (p.Gly592=) rs72549414 0.02926
NM_001005242.3(PKP2):c.-22C>G rs373925978 0.02916
NM_013266.4(CTNNA3):c.843+17A>G rs77409659 0.02787
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001035.3(RYR2):c.8437-7dup rs148246251 0.02544
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_013266.4(CTNNA3):c.1655C>T (p.Thr552Met) rs61737718 0.02389
NM_001035.3(RYR2):c.9449+8T>A rs60777199 0.02348
NM_001943.5(DSG2):c.524-9T>A rs11876289 0.02255
NM_013266.4(CTNNA3):c.393G>A (p.Ala131=) rs80182543 0.02215
NM_001232.4(CASQ2):c.1014+9C>T rs77775029 0.02121
NM_001232.4(CASQ2):c.1005T>C (p.Asn335=) rs28730712 0.02116
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_013266.4(CTNNA3):c.478T>A (p.Ser160Thr) rs61749223 0.01916
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
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_001035.3(RYR2):c.14421C>T (p.Asp4807=) rs75206601 0.01733
NM_024422.6(DSC2):c.*1096T>C rs74749519 0.01657
NM_002230.4(JUP):c.*669C>T rs8074883 0.01622
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_006073.4(TRDN):c.1620A>G (p.Ile540Met) rs7771303 0.01556
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_013266.4(CTNNA3):c.348A>C (p.Pro116=) rs61749224 0.01511
NM_001035.3(RYR2):c.1519G>A (p.Val507Ile) rs16835270 0.01462
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
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_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_006073.4(TRDN):c.1096G>A (p.Ala366Thr) rs35047281 0.01253
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_001943.5(DSG2):c.217-5G>T rs80073511 0.01232
NM_006073.4(TRDN):c.1016G>A (p.Ser339Asn) rs35766971 0.01214
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_013266.4(CTNNA3):c.1603C>T (p.Arg535Cys) rs41274090 0.01060
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_001035.3(RYR2):c.2397-6C>T rs78165942 0.01029
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
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_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_006073.4(TRDN):c.403G>A (p.Glu135Lys) rs192289289 0.00900
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001035.3(RYR2):c.11835C>T (p.Val3945=) rs78939657 0.00787
NM_013266.4(CTNNA3):c.1047C>T (p.Asn349=) rs60262757 0.00761
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_006073.4(TRDN):c.274G>A (p.Val92Ile) rs34808221 0.00711
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001035.3(RYR2):c.7342+16A>G rs76678214 0.00698
NM_001943.5(DSG2):c.2587A>C (p.Met863Leu) rs16962093 0.00694
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001035.3(RYR2):c.2046A>G (p.Thr682=) rs116098815 0.00675
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_001035.3(RYR2):c.8448C>T (p.Asp2816=) rs144876996 0.00659
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_001035.3(RYR2):c.576+7G>C rs10925392 0.00643
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_001035.3(RYR2):c.*130G>A rs12725752 0.00614
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_001035.3(RYR2):c.10143-18A>G rs3736542 0.00594
NM_004415.4(DSP):c.1702-18C>T rs148417566 0.00594
NM_024422.6(DSC2):c.1719C>T (p.Asn573=) rs140167653 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NC_000018.10:g.31103416C>G rs75494355 0.00512
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_006073.4(TRDN):c.1567+19T>C rs182813107 0.00459
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_006073.4(TRDN):c.1721-4A>G rs60743141 0.00430
NM_001005242.3(PKP2):c.1116T>C (p.Ala372=) rs142742483 0.00423
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) rs115814032 0.00420
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_013266.4(CTNNA3):c.99+11C>T rs115451937 0.00411
NM_001943.5(DSG2):c.266A>G (p.Tyr89Cys) rs2230232 0.00406
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_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00315
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.11880+16G>A rs73103904 0.00306
NM_013266.4(CTNNA3):c.1587T>A (p.Asp529Glu) rs74141466 0.00293
NM_013266.4(CTNNA3):c.1588G>T (p.Ala530Ser) rs74141465 0.00293
NM_024422.6(DSC2):c.1264-5C>T rs183614856 0.00292
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001035.3(RYR2):c.9867G>A (p.Gly3289=) rs190537182 0.00281
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser) rs77758574 0.00270
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
NM_013266.4(CTNNA3):c.1611G>A (p.Ala537=) rs146900023 0.00266
NM_001035.3(RYR2):c.5613C>T (p.Asp1871=) rs116774472 0.00265
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=) rs74142830 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_001232.4(CASQ2):c.198G>A (p.Thr66=) rs74114618 0.00243
NM_001035.3(RYR2):c.4068C>T (p.Pro1356=) rs199821105 0.00240
NM_013266.4(CTNNA3):c.1133G>A (p.Arg378His) rs143682596 0.00240
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_006073.4(TRDN):c.430C>T (p.His144Tyr) rs79182520 0.00232
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.939C>T (p.Ser313=) rs61729381 0.00229
NM_001035.3(RYR2):c.6555+6G>A rs372661934 0.00228
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00217
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00214
NM_001035.3(RYR2):c.6555+8C>T rs1759122 0.00211
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001005242.3(PKP2):c.1379-18A>G rs113698150 0.00207
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=) rs61735044 0.00206
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001005242.3(PKP2):c.2168-19T>A rs527736735 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe) rs141227126 0.00197
NM_001943.5(DSG2):c.3082G>A (p.Gly1028Ser) rs150864240 0.00196
NM_001005242.3(PKP2):c.951G>A (p.Ala317=) rs61729382 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=) rs116662854 0.00191
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_013266.4(CTNNA3):c.742G>T (p.Ala248Ser) rs192093851 0.00189
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_001943.5(DSG2):c.1550C>T (p.Ala517Val) rs200509948 0.00184
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile) rs115276158 0.00178
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=) rs111880127 0.00178
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00177
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_013266.4(CTNNA3):c.580-8C>T rs141983252 0.00170
NM_013266.4(CTNNA3):c.2158A>C (p.Arg720=) rs143867269 0.00169
NM_001035.3(RYR2):c.13782+20A>G rs368059068 0.00162
NM_001232.4(CASQ2):c.421-14G>A rs139281637 0.00159
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001035.3(RYR2):c.309+7C>T rs377710043 0.00146
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg) rs184218219 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001035.3(RYR2):c.726C>T (p.Asp242=) rs76380341 0.00119
NM_004415.4(DSP):c.939+17C>T rs140481492 0.00118
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_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_001035.3(RYR2):c.1143C>T (p.Ser381=) rs368844286 0.00105
NM_001035.3(RYR2):c.1296C>A (p.Gly432=) rs184176405 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_006073.4(TRDN):c.932-4C>G rs77768246 0.00098
NM_013266.4(CTNNA3):c.844-15G>A rs201089736 0.00098
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_013266.4(CTNNA3):c.2160-19T>C rs200450770 0.00086
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 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_001035.3(RYR2):c.14090+14C>T rs374425124 0.00066
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
NM_013266.4(CTNNA3):c.156G>C (p.Ser52=) rs61759502 0.00064
NM_001035.3(RYR2):c.1110A>G (p.Leu370=) rs150705689 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001035.3(RYR2):c.2935G>T (p.Ala979Ser) rs202015519 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_001035.3(RYR2):c.*980T>C rs147077947 0.00054
NM_024422.6(DSC2):c.1901G>A (p.Arg634His) rs200475862 0.00052
NM_001005242.3(PKP2):c.2168-6T>C rs368531764 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001035.3(RYR2):c.12663C>T (p.Ser4221=) rs370297602 0.00051
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_001035.3(RYR2):c.13261-18C>T rs376854613 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.7233C>T (p.Ala2411=) rs367994477 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.14152-17C>G rs368078898 0.00043
NM_001035.3(RYR2):c.2397-16C>T rs12081629 0.00042
NM_001035.3(RYR2):c.463+14G>A rs776302587 0.00042
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_004415.4(DSP):c.5167G>C (p.Glu1723Gln) rs142803672 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001035.3(RYR2):c.11246-11del rs397516503 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_004415.4(DSP):c.688G>A (p.Asp230Asn) rs147315869 0.00038
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_006073.4(TRDN):c.1472-12G>A rs375364108 0.00036
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00036
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_013266.4(CTNNA3):c.2159+15A>G rs749117441 0.00034
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_001035.3(RYR2):c.774-14G>T rs370114411 0.00031
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731 0.00030
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.14809-20C>T rs141119268 0.00028
NM_001035.3(RYR2):c.*55T>C rs192720264 0.00027
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_013266.4(CTNNA3):c.387G>A (p.Leu129=) rs143943926 0.00026
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001035.3(RYR2):c.-63G>T rs578020342 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_004415.4(DSP):c.6381C>T (p.Ala2127=) rs146315412 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_001035.3(RYR2):c.2907-19C>T rs549409624 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_013266.4(CTNNA3):c.1422G>A (p.Ala474=) rs372258059 0.00022
NM_013266.4(CTNNA3):c.2601G>A (p.Thr867=) rs575703238 0.00022
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) rs190073606 0.00022
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_002230.4(JUP):c.1941C>T (p.Ala647=) rs368865601 0.00019
NM_004415.4(DSP):c.6010G>T (p.Val2004Phe) rs764692193 0.00019
NM_004415.4(DSP):c.6247C>T (p.Arg2083Cys) rs370093129 0.00019
NM_004415.4(DSP):c.961G>C (p.Val321Leu) rs143994626 0.00019
NM_001943.5(DSG2):c.2334+9G>A rs776516070 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_001943.5(DSG2):c.1280+17C>T rs199885701 0.00017
NM_001005242.3(PKP2):c.1379-2068C>T rs377424658 0.00016
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_004415.4(DSP):c.1949A>G (p.Asn650Ser) rs145650440 0.00016
NM_004415.4(DSP):c.2468C>T (p.Ser823Leu) rs141834182 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_004415.4(DSP):c.6479G>A (p.Arg2160Gln) rs146642551 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_004415.4(DSP):c.1534A>G (p.Ile512Val) rs202025438 0.00014
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00014
NM_013266.4(CTNNA3):c.1977+18G>C rs574293198 0.00014
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001035.3(RYR2):c.3067-15T>C rs185110433 0.00013
NM_001035.3(RYR2):c.4911-19A>G rs140517111 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_004415.4(DSP):c.251G>A (p.Arg84Gln) rs373736975 0.00013
NM_004415.4(DSP):c.2774G>A (p.Arg925Gln) rs139799237 0.00013
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_004415.4(DSP):c.2037A>G (p.Ile679Met) rs151049942 0.00012
NM_004415.4(DSP):c.2134G>A (p.Val712Met) rs397516922 0.00012
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=) rs3748278 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001035.3(RYR2):c.7542G>A (p.Leu2514=) rs371088367 0.00011
NM_001232.4(CASQ2):c.421-18G>C rs202228431 0.00011
NM_001232.4(CASQ2):c.421-20A>T rs201559752 0.00011
NM_004415.4(DSP):c.6566G>A (p.Arg2189Gln) rs766933370 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004415.4(DSP):c.687C>T (p.Gly229=) rs112877191 0.00011
NM_004415.4(DSP):c.8173C>T (p.Arg2725Cys) rs141078292 0.00011
NM_004415.4(DSP):c.897C>T (p.Ser299=) rs121912992 0.00011
NM_001035.3(RYR2):c.4094C>T (p.Ala1365Val) rs373261115 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_004415.4(DSP):c.4992G>C (p.Leu1664=) rs772302453 0.00010
NM_004415.4(DSP):c.5304G>C (p.Gly1768=) rs530612211 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_001035.3(RYR2):c.5754C>T (p.Val1918=) rs397516545 0.00009
NM_004415.4(DSP):c.5617C>T (p.Arg1873Cys) rs144392839 0.00009
NM_004415.4(DSP):c.667G>A (p.Gly223Ser) rs200806163 0.00009
NM_004415.4(DSP):c.7852C>T (p.Pro2618Ser) rs376005629 0.00009
NM_004415.4(DSP):c.8544A>C (p.Gly2848=) rs201876903 0.00009
NM_013266.4(CTNNA3):c.1978-9A>G rs771655401 0.00009
NM_013266.4(CTNNA3):c.399G>A (p.Thr133=) rs150376558 0.00009
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_004415.4(DSP):c.107G>C (p.Gly36Ala) rs778506459 0.00008
NM_004415.4(DSP):c.5316T>C (p.Asp1772=) rs376186141 0.00008
NM_001035.3(RYR2):c.12669G>A (p.Lys4223=) rs147887477 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_004415.4(DSP):c.2941A>G (p.Lys981Glu) rs747580402 0.00007
NM_004415.4(DSP):c.8172G>T (p.Gln2724His) rs372569211 0.00007
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.3507C>T (p.Asn1169=) rs746106606 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.5917-12T>G rs746414195 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_004415.4(DSP):c.1494G>A (p.Pro498=) rs764544754 0.00006
NM_004415.4(DSP):c.174A>G (p.Gln58=) rs140384933 0.00006
NM_004415.4(DSP):c.259C>G (p.Leu87Val) rs377652477 0.00006
NM_004415.4(DSP):c.3304G>A (p.Gly1102Ser) rs2491079 0.00006
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.5197G>A (p.Asp1733Asn) rs138588403 0.00006
NM_004415.4(DSP):c.5417C>G (p.Thr1806Ser) rs149773722 0.00006
NM_004415.4(DSP):c.6511A>G (p.Asn2171Asp) rs149827779 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_013266.4(CTNNA3):c.1959C>T (p.Thr653=) rs556623128 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_024422.6(DSC2):c.2139G>A (p.Thr713=) rs112532429 0.00006
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_004415.4(DSP):c.1034A>G (p.Asp345Gly) rs753855393 0.00005
NM_004415.4(DSP):c.2247A>G (p.Leu749=) rs28763963 0.00005
NM_004415.4(DSP):c.284A>G (p.Tyr95Cys) rs781226937 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004415.4(DSP):c.4401A>G (p.Gln1467=) rs199818953 0.00005
NM_004415.4(DSP):c.5221G>A (p.Ala1741Thr) rs777773801 0.00005
NM_004415.4(DSP):c.5285G>A (p.Arg1762Gln) rs751849031 0.00005
NM_004415.4(DSP):c.643G>A (p.Glu215Lys) rs148095061 0.00005
NM_004415.4(DSP):c.8255G>A (p.Arg2752Gln) rs769706539 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001035.3(RYR2):c.*218T>G rs373132792 0.00004
NM_001035.3(RYR2):c.12427A>C (p.Lys4143Gln) rs750908017 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.345C>T (p.Tyr115=) rs397516525 0.00004
NM_001035.3(RYR2):c.5662C>T (p.Arg1888Trp) rs1006109370 0.00004
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=) rs546545700 0.00004
NM_001035.3(RYR2):c.9129-20C>G rs770609583 0.00004
NM_001035.3(RYR2):c.9449+16G>A rs765138478 0.00004
NM_001943.5(DSG2):c.1911C>T (p.Cys637=) rs201654341 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_004415.4(DSP):c.1222A>C (p.Asn408His) rs142129767 0.00004
NM_004415.4(DSP):c.1413A>G (p.Gln471=) rs376983987 0.00004
NM_004415.4(DSP):c.2684A>G (p.Tyr895Cys) rs367752002 0.00004
NM_004415.4(DSP):c.3134G>A (p.Arg1045Gln) rs374263890 0.00004
NM_004415.4(DSP):c.4915G>A (p.Val1639Met) rs539587517 0.00004
NM_004415.4(DSP):c.5222C>T (p.Ala1741Val) rs749124581 0.00004
NM_004415.4(DSP):c.5668A>G (p.Arg1890Gly) rs762079110 0.00004
NM_004415.4(DSP):c.6442G>A (p.Ala2148Thr) rs144539278 0.00004
NM_004415.4(DSP):c.7738G>T (p.Asp2580Tyr) rs371129517 0.00004
NM_013266.4(CTNNA3):c.1215T>C (p.Asn405=) rs775938724 0.00004
NM_013266.4(CTNNA3):c.2401-11T>G rs761888151 0.00004
NM_024334.3(TMEM43):c.579G>A (p.Ser193=) rs369319499 0.00004
NM_001035.3(RYR2):c.1171-14T>G rs751389436 0.00003
NM_001035.3(RYR2):c.348A>G (p.Gly116=) rs775744289 0.00003
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_004415.4(DSP):c.1695C>T (p.Ile565=) rs752714010 0.00003
NM_004415.4(DSP):c.21C>T (p.Ser7=) rs750532252 0.00003
NM_004415.4(DSP):c.6248G>A (p.Arg2083His) rs574637009 0.00003
NM_004415.4(DSP):c.789T>C (p.Phe263=) rs1354363918 0.00003
NM_004415.4(DSP):c.8433G>A (p.Lys2811=) rs753011095 0.00003
NM_006073.4(TRDN):c.2050+16G>A rs543899749 0.00003
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala) rs368299411 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_001035.3(RYR2):c.3933G>A (p.Ala1311=) rs573948177 0.00002
NM_001035.3(RYR2):c.463+7A>G rs755850445 0.00002
NM_001035.3(RYR2):c.5428G>C (p.Val1810Leu) rs754364233 0.00002
NM_001035.3(RYR2):c.8876A>C (p.Glu2959Ala) rs536037366 0.00002
NM_001943.5(DSG2):c.1914A>G (p.Gly638=) rs200395484 0.00002
NM_004415.4(DSP):c.2046C>T (p.Cys682=) rs771674559 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_004415.4(DSP):c.467T>A (p.Ile156Asn) rs767692014 0.00002
NM_004415.4(DSP):c.4767C>T (p.Cys1589=) rs763203149 0.00002
NM_004415.4(DSP):c.4886G>T (p.Ser1629Ile) rs200243976 0.00002
NM_004415.4(DSP):c.5610A>G (p.Gln1870=) rs777420903 0.00002
NM_004415.4(DSP):c.6451C>T (p.Arg2151Trp) rs181608152 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_013266.4(CTNNA3):c.2133C>T (p.Ile711=) rs754084649 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024422.6(DSC2):c.1680G>A (p.Thr560=) rs567202599 0.00002
NM_001005242.3(PKP2):c.1034+10C>T rs759397762 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030 0.00001
NM_001035.3(RYR2):c.1077A>G (p.Ser359=) rs727505317 0.00001
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.2613+16C>T rs542609503 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.5136C>T (p.Ser1712=) rs397516540 0.00001
NM_001035.3(RYR2):c.5680C>A (p.Leu1894Ile) rs555692728 0.00001
NM_001035.3(RYR2):c.8879T>C (p.Ile2960Thr) rs759048462 0.00001
NM_001035.3(RYR2):c.9646G>A (p.Glu3216Lys) rs760965671 0.00001
NM_001943.5(DSG2):c.81+10C>T rs764150806 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_004415.4(DSP):c.108C>T (p.Gly36=) rs755510597 0.00001
NM_004415.4(DSP):c.1562A>C (p.Asp521Ala) rs748790273 0.00001
NM_004415.4(DSP):c.1992A>G (p.Gln664=) rs759117503 0.00001
NM_004415.4(DSP):c.2666G>A (p.Arg889Lys) rs762341335 0.00001
NM_004415.4(DSP):c.3039T>C (p.Tyr1013=) rs1383881452 0.00001
NM_004415.4(DSP):c.3216C>T (p.Phe1072=) rs774512190 0.00001
NM_004415.4(DSP):c.38C>T (p.Thr13Ile) rs201133637 0.00001
NM_004415.4(DSP):c.5589C>T (p.Asp1863=) rs751379396 0.00001
NM_004415.4(DSP):c.5912T>C (p.Leu1971Pro) rs397516950 0.00001
NM_004415.4(DSP):c.6927G>A (p.Arg2309=) rs747248981 0.00001
NM_004415.4(DSP):c.7089C>T (p.His2363=) rs1001343270 0.00001
NM_004415.4(DSP):c.7650C>T (p.Gly2550=) rs780277298 0.00001
NM_004415.4(DSP):c.7767A>G (p.Ser2589=) rs755928079 0.00001
NM_004415.4(DSP):c.7986C>A (p.His2662Gln) rs753720770 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004415.4(DSP):c.8217G>A (p.Pro2739=) rs755508926 0.00001
NM_004415.4(DSP):c.867C>T (p.Cys289=) rs397516973 0.00001
NM_013266.4(CTNNA3):c.1318G>A (p.Asp440Asn) rs545174357 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2125+18T>G rs750103770 0.00001
NM_001005242.3(PKP2):c.*944C>A rs6488090
NM_001005242.3(PKP2):c.1379-1967dup
NM_001005242.3(PKP2):c.1556+9A>G rs397517004
NM_001005242.3(PKP2):c.1557-15dup
NM_001005242.3(PKP2):c.1557-8dup rs200009796
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2168-11dup rs746936605
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001035.3(RYR2):c.*129C>G rs16835891
NM_001035.3(RYR2):c.*714C>G rs12406863
NM_001035.3(RYR2):c.10555-7dup rs776795619
NM_001035.3(RYR2):c.10936-5dup
NM_001035.3(RYR2):c.1108C>T (p.Leu370=) rs534621173
NM_001035.3(RYR2):c.11558-12dup rs769193958
NM_001035.3(RYR2):c.1170+19dup rs1167148257
NM_001035.3(RYR2):c.11776-18T>A
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
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.1476+18C>G
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.2613+5_2613+6insTTGC rs747260754
NM_001035.3(RYR2):c.2910C>T (p.Tyr970=) rs575899061
NM_001035.3(RYR2):c.3599-10_3599-9del
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.3599-9dup rs11331089
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.385-9A>G rs140998248
NM_001035.3(RYR2):c.4436+21dup
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.5654G>C (p.Gly1885Ala) rs41315858
NM_001035.3(RYR2):c.5657G>C (p.Gly1886Ala)
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6022+13del rs1166918981
NM_001035.3(RYR2):c.6793-4G>A rs568936247
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12del
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.7222-8dup
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.7825-10del
NM_001035.3(RYR2):c.8872C>A (p.Gln2958Lys)
NM_001035.3(RYR2):c.8877A>C (p.Glu2959Asp)
NM_001035.3(RYR2):c.9128+18dup
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9581-545C>A rs12040571
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001232.4(CASQ2):c.421-15C>T rs199939582
NM_001232.4(CASQ2):c.730_731inv (p.His244Cys)
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001232.4(CASQ2):c.738-27dup rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-7T>C
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.784-17T>A rs2997741
NM_001232.4(CASQ2):c.784-17T>G rs2997741
NM_001232.4(CASQ2):c.940-11del
NM_001943.5(DSG2):c.523+23_523+24del rs77324780
NM_001943.5(DSG2):c.523+24del rs77324780
NM_001943.5(DSG2):c.523+24dup rs77324780
NM_001943.5(DSG2):c.877A>G (p.Ile293Val) rs2230234
NM_002230.4(JUP):c.1498-6del rs1555599887
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.1302G>A (p.Gln434=)
NM_004415.4(DSP):c.1359A>G (p.Pro453=)
NM_004415.4(DSP):c.1404C>T (p.Asp468=)
NM_004415.4(DSP):c.1437G>A (p.Gly479=)
NM_004415.4(DSP):c.1455G>A (p.Lys485=)
NM_004415.4(DSP):c.157T>G (p.Ser53Ala) rs397516918
NM_004415.4(DSP):c.177C>T (p.Thr59=) rs376873185
NM_004415.4(DSP):c.1806T>C (p.Asp602=) rs560969680
NM_004415.4(DSP):c.1848G>A (p.Gln616=) rs1215425090
NM_004415.4(DSP):c.1998A>G (p.Thr666=)
NM_004415.4(DSP):c.2040G>A (p.Glu680=)
NM_004415.4(DSP):c.234C>T (p.Cys78=)
NM_004415.4(DSP):c.2400C>T (p.Asp800=)
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2540C>G (p.Pro847Arg) rs727504657
NM_004415.4(DSP):c.2622C>T (p.Ile874=)
NM_004415.4(DSP):c.2631-3dup rs1759237078
NM_004415.4(DSP):c.2748A>G (p.Lys916=)
NM_004415.4(DSP):c.2765C>T (p.Thr922Ile) rs755099716
NM_004415.4(DSP):c.3005G>A (p.Arg1002Gln) rs371234425
NM_004415.4(DSP):c.3061C>T (p.Leu1021=)
NM_004415.4(DSP):c.3162G>A (p.Lys1054=)
NM_004415.4(DSP):c.3276G>C (p.Ser1092=) rs202057409
NM_004415.4(DSP):c.3339A>T (p.Arg1113=)
NM_004415.4(DSP):c.3414C>T (p.Asp1138=)
NM_004415.4(DSP):c.3555G>A (p.Lys1185=)
NM_004415.4(DSP):c.36C>T (p.Asn12=) rs886061744
NM_004415.4(DSP):c.3792T>A (p.Thr1264=)
NM_004415.4(DSP):c.3870T>C (p.His1290=)
NM_004415.4(DSP):c.423-9dup rs1554105896
NM_004415.4(DSP):c.4515G>C (p.Ala1505=)
NM_004415.4(DSP):c.5145G>A (p.Lys1715=)
NM_004415.4(DSP):c.5257A>C (p.Arg1753=) rs775072446
NM_004415.4(DSP):c.5305C>T (p.Leu1769=)
NM_004415.4(DSP):c.5844G>A (p.Gly1948=)
NM_004415.4(DSP):c.5847C>A (p.Ser1949=) rs953031251
NM_004415.4(DSP):c.6045A>G (p.Ala2015=)
NM_004415.4(DSP):c.6069T>C (p.Ala2023=)
NM_004415.4(DSP):c.6210C>T (p.Asp2070=)
NM_004415.4(DSP):c.6294T>C (p.Asp2098=)
NM_004415.4(DSP):c.6459G>A (p.Leu2153=)
NM_004415.4(DSP):c.6648T>G (p.Pro2216=)
NM_004415.4(DSP):c.6708G>A (p.Leu2236=)
NM_004415.4(DSP):c.7026T>C (p.Pro2342=)
NM_004415.4(DSP):c.727-14_727-13del
NM_004415.4(DSP):c.7557G>A (p.Leu2519=) rs397516957
NM_004415.4(DSP):c.7656C>G (p.Leu2552=)
NM_004415.4(DSP):c.8061G>A (p.Arg2687=)
NM_004415.4(DSP):c.8111AGA[2] (p.Lys2706del) rs397516962
NM_004415.4(DSP):c.8179C>T (p.Leu2727=)
NM_004415.4(DSP):c.8436C>T (p.Gly2812=)
NM_004415.4(DSP):c.8496A>C (p.Gly2832=) rs760011967
NM_004415.4(DSP):c.8583C>T (p.Ser2861=)
NM_004415.4(DSP):c.87G>A (p.Glu29=)
NM_004415.4(DSP):c.885G>A (p.Leu295=)
NM_004415.4(DSP):c.93C>T (p.Thr31=)
NM_006073.4(TRDN):c.1052-10dup
NM_006073.4(TRDN):c.1105+13del
NM_006073.4(TRDN):c.1135+17dup
NM_006073.4(TRDN):c.1187-2A>G rs578024729
NM_006073.4(TRDN):c.1220-19del
NM_006073.4(TRDN):c.1220-19dup rs750105897
NM_006073.4(TRDN):c.1220-20_1220-19del
NM_006073.4(TRDN):c.1313T>A (p.Ile438Asn) rs2873479
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1511-13del rs768721605
NM_006073.4(TRDN):c.1511-13dup
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006073.4(TRDN):c.1784-10dup rs1776904446
NM_006073.4(TRDN):c.1784-17del rs750605412
NM_006073.4(TRDN):c.1784-17dup
NM_006073.4(TRDN):c.1805-21dup rs11373802
NM_006073.4(TRDN):c.1906+14del
NM_006073.4(TRDN):c.1975+9G>A rs111276785
NM_006073.4(TRDN):c.2015-10del
NM_006073.4(TRDN):c.2015-10dup
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006073.4(TRDN):c.497AAAAAG[1] (p.166EK[1]) rs148596612
NM_006073.4(TRDN):c.931+18del rs201431159
NM_006073.4(TRDN):c.931+18dup rs201431159
NM_013266.4(CTNNA3):c.1048-12dup
NM_013266.4(CTNNA3):c.1587_1588delinsAT (p.Asp529_Ala530delinsGluSer) rs1554949356
NM_013266.4(CTNNA3):c.2401-23dup rs1338241471
NM_013266.4(CTNNA3):c.240T>C (p.Ala80=)
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.706-3del
NM_024334.3(TMEM43):c.780+20del
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024422.6(DSC2):c.*133G>A rs139923163
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.1664-17dup
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.630+13del rs763577727
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-18dup rs572309510
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024422.6(DSC2):c.70-8dup rs1048960125
NM_024422.6(DSC2):c.942+13_942+15dup rs5823783
NM_024422.6(DSC2):c.942+23C>A
NM_024422.6(DSC2):c.943-9dup rs1987283946

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