ClinVar Miner

List of variants reported as likely benign for cardiomyopathy by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 774
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_000371.4(TTR):c.76G>A (p.Gly26Ser) rs1800458 0.05309
NM_014000.3(VCL):c.*1853A>C rs554923257 0.04999
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_004006.3(DMD):c.5016T>A (p.Asn1672Lys) rs16990264 0.02084
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_004006.3(DMD):c.832-17C>A rs72470514 0.01678
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_182914.3(SYNE2):c.8597C>T (p.Thr2866Met) rs114508894 0.01330
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_182914.3(SYNE2):c.9023T>C (p.Ile3008Thr) rs115969845 0.01198
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_004100.5(EYA4):c.*2799C>A rs143596676 0.00882
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu) rs115658240 0.00835
NM_004006.3(DMD):c.3603+8A>G rs193249735 0.00743
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_182914.3(SYNE2):c.888+17A>G rs141247973 0.00534
NM_001206641.3(COA6):c.212+162G>A rs113627094 0.00491
NM_002471.4(MYH6):c.36G>A (p.Ala12=) rs141014719 0.00487
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_182914.3(SYNE2):c.2803T>C (p.Leu935=) rs114718315 0.00474
NM_001005242.3(PKP2):c.*202C>T rs77988382 0.00472
NM_000257.4(MYH7):c.3864C>G (p.Ser1288=) rs45501694 0.00469
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_002471.4(MYH6):c.1989C>T (p.Asn663=) rs28730774 0.00451
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn) rs143070183 0.00415
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_182914.3(SYNE2):c.16420T>A (p.Ser5474Thr) rs114483901 0.00399
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr) rs150170988 0.00396
NM_182961.4(SYNE1):c.20199+16C>T rs114739771 0.00395
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_004100.5(EYA4):c.*2918G>A rs75986250 0.00369
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_133379.5(TTN):c.12067G>A (p.Gly4023Arg) rs143253411 0.00332
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_182914.3(SYNE2):c.20117G>A (p.Arg6706Gln) rs35831865 0.00309
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_001792.5(CDH2):c.885C>T (p.Asp295=) rs17493618 0.00300
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_001792.5(CDH2):c.702+6A>T rs17493682 0.00293
NM_182961.4(SYNE1):c.12170C>T (p.Pro4057Leu) rs150179494 0.00284
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_182914.3(SYNE2):c.15781G>A (p.Val5261Ile) rs144605670 0.00267
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) rs77367833 0.00251
NM_000337.6(SGCD):c.699+71G>A rs187204080 0.00245
NM_000157.4(GBA1):c.1444G>A (p.Asp482Asn) rs75671029 0.00236
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_144573.4(NEXN):c.1659+18C>G rs147422621 0.00228
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_000257.4(MYH7):c.3351G>A (p.Glu1117=) rs45554236 0.00217
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_133379.5(TTN):c.13347A>G (p.Ile4449Met) rs144539321 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_014000.3(VCL):c.2434+19T>C rs188216596 0.00198
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser) rs144762960 0.00195
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu) rs141392048 0.00180
NM_001105206.3(LAMA4):c.2493+15G>T rs77901141 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_001943.5(DSG2):c.45+16G>C rs199519502 0.00177
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_002709.3(PPP1CB):c.53-9G>A rs368197884 0.00172
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_002471.4(MYH6):c.2890G>T (p.Ala964Ser) rs144907522 0.00148
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg) rs7215458 0.00140
NM_182914.3(SYNE2):c.19135C>T (p.Arg6379Cys) rs141741640 0.00138
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001267550.2(TTN):c.32555-6T>C rs375742678 0.00129
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_001458.5(FLNC):c.3000T>C (p.Asp1000=) rs184454068 0.00110
NM_004006.3(DMD):c.7571G>A (p.Arg2524His) rs151244052 0.00109
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000157.4(GBA1):c.1473C>T (p.Pro491=) rs149257166 0.00094
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001458.5(FLNC):c.7185C>T (p.Ser2395=) rs199880128 0.00090
NM_133379.5(TTN):c.13045C>A (p.Pro4349Thr) rs140064945 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_001267550.2(TTN):c.44784T>C (p.Asp14928=) rs186105748 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_001267550.2(TTN):c.25223C>T (p.Thr8408Ile) rs201432372 0.00083
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr) rs139881948 0.00073
NM_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
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_001103.4(ACTN2):c.877-6G>A rs397516585 0.00068
NM_003239.5(TGFB3):c.179C>T (p.Thr60Met) rs4252315 0.00066
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_000447.3(PSEN2):c.162G>C (p.Glu54Asp) rs146894466 0.00063
NM_004006.3(DMD):c.1028G>A (p.Arg343His) rs61733589 0.00062
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001035.3(RYR2):c.11092-10A>T rs577119352 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=) rs373205864 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_022114.4(PRDM16):c.2603+6C>T rs374549827 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) rs149615862 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_007078.3(LDB3):c.1045T>A (p.Ser349Thr) rs147042608 0.00051
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) rs139241892 0.00050
NM_000335.5(SCN5A):c.1335C>T (p.His445=) rs368045716 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_006073.4(TRDN):c.611-19A>T rs142018848 0.00044
NM_014000.3(VCL):c.1237G>A (p.Ala413Thr) rs146278697 0.00044
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_133379.5(TTN):c.10617T>C (p.His3539=) rs200284932 0.00042
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_144573.4(NEXN):c.1785C>T (p.Asp595=) rs182998780 0.00041
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_032578.4(MYPN):c.2190G>A (p.Thr730=) rs71584492 0.00040
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001943.5(DSG2):c.121C>A (p.His41Asn) rs201499704 0.00039
NM_182961.4(SYNE1):c.12411C>T (p.His4137=) rs751325537 0.00039
NM_004006.3(DMD):c.3163-18T>C rs72468662 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_000152.5(GAA):c.1754+11C>T rs371644603 0.00034
NM_024422.6(DSC2):c.174T>C (p.Phe58=) rs150792047 0.00034
NM_006073.4(TRDN):c.1472-13C>T rs367962513 0.00033
NM_001232.4(CASQ2):c.320-18C>T rs376871374 0.00032
NM_000447.3(PSEN2):c.520A>G (p.Met174Val) rs61757781 0.00031
NM_001458.5(FLNC):c.5070C>T (p.Leu1690=) rs202027738 0.00031
NM_014000.3(VCL):c.1626C>T (p.Leu542=) rs150402791 0.00031
NM_020433.5(JPH2):c.1566G>A (p.Arg522=) rs559143345 0.00031
NM_001035.3(RYR2):c.1292+19G>A rs368198276 0.00030
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001267550.2(TTN):c.39057G>A (p.Pro13019=) rs371945519 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_000258.3(MYL3):c.307+16G>A rs759754750 0.00029
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_001927.4(DES):c.640-16G>A rs181712657 0.00028
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001079802.2(FKTN):c.910+13C>T rs375259473 0.00026
NM_001122630.2(CDKN1C):c.213G>A (p.Val71=) rs141005361 0.00026
NM_005921.2(MAP3K1):c.2431A>G (p.Met811Val) rs189290632 0.00026
NM_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_001458.5(FLNC):c.1026C>T (p.Pro342=) rs200633995 0.00023
NM_020297.4(ABCC9):c.3315+17C>T rs200692327 0.00023
NM_013266.4(CTNNA3):c.779A>G (p.Gln260Arg) rs190073606 0.00022
NM_000257.4(MYH7):c.5656-9C>T rs781212482 0.00021
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_000363.5(TNNI3):c.373-16C>T rs373508654 0.00021
NM_001267550.2(TTN):c.40634-10T>A rs375097334 0.00021
NM_001458.5(FLNC):c.5889G>A (p.Thr1963=) rs374743518 0.00021
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_000257.4(MYH7):c.5283+19C>T rs45582836 0.00020
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) rs749285793 0.00020
NM_001267550.2(TTN):c.10977G>A (p.Ala3659=) rs369327691 0.00020
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_133379.5(TTN):c.13614A>C (p.Gln4538His) rs139344272 0.00019
NM_001267550.2(TTN):c.38627-16A>G rs1014728001 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_004100.5(EYA4):c.1617-13C>G rs756045097 0.00018
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_007078.3(LDB3):c.1858-10T>C rs202208256 0.00017
NM_000337.5(SGCD):c.-404G>A rs192662989 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=) rs201667127 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_004415.4(DSP):c.7599T>C (p.Ala2533=) rs374266378 0.00016
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_020433.5(JPH2):c.579C>T (p.Pro193=) rs534491843 0.00015
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_000447.3(PSEN2):c.886+16G>A rs202005802 0.00014
NM_001267550.2(TTN):c.15333C>T (p.Asp5111=) rs368695667 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_001267550.2(TTN):c.78991C>A (p.Arg26331=) rs779996703 0.00013
NM_002471.4(MYH6):c.4526-9G>C rs201785356 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_000363.5(TNNI3):c.132G>C (p.Ser44=) rs727504941 0.00012
NM_001267550.2(TTN):c.107082G>A (p.Leu35694=) rs727505278 0.00012
NM_001943.5(DSG2):c.81+17A>G rs547399759 0.00012
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_000257.4(MYH7):c.5656-4G>A rs397516250 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001267550.2(TTN):c.100766-11T>C rs761345673 0.00011
NM_001267550.2(TTN):c.25063+18C>T rs541890371 0.00011
NM_001267550.2(TTN):c.73770T>C (p.Tyr24590=) rs201380749 0.00011
NM_001267550.2(TTN):c.78063C>T (p.Pro26021=) rs72648204 0.00011
NM_002471.4(MYH6):c.2097C>T (p.Gly699=) rs149734381 0.00011
NM_002471.4(MYH6):c.2805C>T (p.Asn935=) rs757958461 0.00011
NM_002471.4(MYH6):c.2973C>T (p.Ile991=) rs374807345 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006073.4(TRDN):c.23-19T>G rs370102595 0.00011
NM_032578.4(MYPN):c.2742T>C (p.Asn914=) rs372375235 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_000337.6(SGCD):c.3+11C>T rs374790317 0.00010
NM_001267550.2(TTN):c.40250C>T (p.Pro13417Leu) rs537578226 0.00010
NM_001943.5(DSG2):c.523+20T>C rs775127367 0.00010
NM_002471.4(MYH6):c.1662C>T (p.Tyr554=) rs374114140 0.00010
NM_002471.4(MYH6):c.420C>T (p.Ala140=) rs145023897 0.00010
NM_003673.3(TCAP):c.-13A>G rs368175926 0.00010
NM_004006.3(DMD):c.5048C>G (p.Thr1683Ser) rs146420425 0.00010
NM_006172.4(NPPA):c.375G>A (p.Leu125=) rs765926210 0.00010
NM_000152.5(GAA):c.664G>A (p.Val222Met) rs374569672 0.00009
NM_000218.3(KCNQ1):c.1458C>T (p.Ala486=) rs200275211 0.00009
NM_000475.5(NR0B1):c.469C>T (p.His157Tyr) rs776059398 0.00009
NM_001267550.2(TTN):c.107688G>A (p.Pro35896=) rs542575761 0.00009
NM_001267550.2(TTN):c.29325C>T (p.Asn9775=) rs377442695 0.00009
NM_001267550.2(TTN):c.36159G>A (p.Thr12053=) rs773862719 0.00009
NM_001267550.2(TTN):c.88407G>A (p.Ala29469=) rs531445644 0.00009
NM_001267550.2(TTN):c.90642A>T (p.Ala30214=) rs552314114 0.00009
NM_001458.5(FLNC):c.1606G>A (p.Glu536Lys) rs141616435 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=) rs139329956 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_024422.6(DSC2):c.-25C>G rs904308285 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_001458.5(FLNC):c.7434C>T (p.Ile2478=) rs773767211 0.00008
NM_002471.4(MYH6):c.1141+11C>T rs373521230 0.00008
NM_003239.5(TGFB3):c.101A>G (p.His34Arg) rs199791687 0.00008
NM_004415.4(DSP):c.888C>T (p.Tyr296=) rs149701627 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_001105206.3(LAMA4):c.196-11G>A rs374364713 0.00007
NM_001267550.2(TTN):c.64326G>A (p.Ala21442=) rs377109969 0.00007
NM_001943.5(DSG2):c.3195T>C (p.Thr1065=) rs544981484 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_000152.5(GAA):c.1754+17G>A rs769797291 0.00006
NM_000256.3(MYBPC3):c.773-18T>C rs755484970 0.00006
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00006
NM_001018005.2(TPM1):c.115-335G>T rs587780971 0.00006
NM_001105206.3(LAMA4):c.1551+8G>A rs782128294 0.00006
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=) rs781903380 0.00006
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) rs569846404 0.00006
NM_001267550.2(TTN):c.107364C>T (p.Ser35788=) rs1057521273 0.00006
NM_001267550.2(TTN):c.22666C>T (p.Arg7556Cys) rs754885396 0.00006
NM_001267550.2(TTN):c.27050-6G>A rs765624428 0.00006
NM_001267550.2(TTN):c.60198G>A (p.Pro20066=) rs767152563 0.00006
NM_001267550.2(TTN):c.70380G>A (p.Leu23460=) rs185660043 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001458.5(FLNC):c.651C>T (p.Asn217=) rs370425863 0.00006
NM_002471.4(MYH6):c.4651-14C>A rs902807471 0.00006
NM_002471.4(MYH6):c.800-5C>T rs727505228 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_004006.3(DMD):c.6117+15C>T rs754718247 0.00006
NM_004281.4(BAG3):c.1362C>T (p.Ile454=) rs372417286 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_004415.4(DSP):c.1155G>A (p.Ala385=) rs140488069 0.00006
NM_004415.4(DSP):c.4914C>T (p.Asp1638=) rs750113099 0.00006
NM_005159.5(ACTC1):c.129+18C>A rs368977747 0.00006
NM_006073.4(TRDN):c.1975+8C>T rs754046696 0.00006
NM_007078.3(LDB3):c.1231+19G>A rs763969244 0.00006
NM_014908.4(DOLK):c.52G>A (p.Gly18Arg) rs777998210 0.00006
NM_020433.5(JPH2):c.380-20C>T rs779167207 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_000218.3(KCNQ1):c.1749C>T (p.Arg583=) rs200670744 0.00005
NM_000371.4(TTR):c.336+18C>T rs370628373 0.00005
NM_001103.4(ACTN2):c.537-14C>T rs577211083 0.00005
NM_001232.4(CASQ2):c.927C>T (p.Asp309=) rs749266321 0.00005
NM_001267550.2(TTN):c.30717A>C (p.Lys10239Asn) rs553520141 0.00005
NM_001267550.2(TTN):c.55932T>C (p.Phe18644=) rs755839294 0.00005
NM_001267550.2(TTN):c.60221-19T>C rs533551256 0.00005
NM_001267550.2(TTN):c.99039T>C (p.Asp33013=) rs1037997977 0.00005
NM_002471.4(MYH6):c.5587C>T (p.Leu1863=) rs142767538 0.00005
NM_002471.4(MYH6):c.5661+9A>G rs373908250 0.00005
NM_004006.3(DMD):c.1713T>A (p.Phe571Leu) rs587782936 0.00005
NM_004168.4(SDHA):c.51G>A (p.Ala17=) rs764698195 0.00005
NM_004415.4(DSP):c.1983T>C (p.Asn661=) rs770735715 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_032578.4(MYPN):c.2925+20A>C rs200111945 0.00005
NM_032578.4(MYPN):c.3456C>T (p.Thr1152=) rs202183926 0.00005
NM_000152.5(GAA):c.762G>A (p.Ser254=) rs533960093 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.2640C>T (p.Asp880=) rs397515980 0.00004
NM_000256.3(MYBPC3):c.630C>T (p.His210=) rs762695516 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met) rs776834755 0.00004
NM_000257.4(MYH7):c.4077C>T (p.Arg1359=) rs45523835 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.924C>T (p.Tyr308=) rs762065412 0.00004
NM_000337.6(SGCD):c.393C>T (p.Ala131=) rs397517922 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_001018005.2(TPM1):c.783C>T (p.Tyr261=) rs751001221 0.00004
NM_001103.4(ACTN2):c.2376C>T (p.Ala792=) rs369320952 0.00004
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) rs755917660 0.00004
NM_001267550.2(TTN):c.39818-9T>C rs368834130 0.00004
NM_001267550.2(TTN):c.49008G>A (p.Val16336=) rs781078888 0.00004
NM_001267550.2(TTN):c.51735C>T (p.Pro17245=) rs747557917 0.00004
NM_001267550.2(TTN):c.57501T>C (p.Asn19167=) rs780536141 0.00004
NM_001267550.2(TTN):c.6162C>T (p.Ala2054=) rs143265948 0.00004
NM_001267550.2(TTN):c.62802T>C (p.Tyr20934=) rs762414876 0.00004
NM_001267550.2(TTN):c.6489C>T (p.His2163=) rs762045402 0.00004
NM_001267550.2(TTN):c.8937C>T (p.Asn2979=) rs368525666 0.00004
NM_001267550.2(TTN):c.94230C>T (p.Ser31410=) rs373502790 0.00004
NM_001458.5(FLNC):c.4650C>T (p.Asn1550=) rs547733871 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_003673.4(TCAP):c.54G>C (p.Arg18=) rs754054712 0.00004
NM_004006.3(DMD):c.1742C>T (p.Ala581Val) rs763155705 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004415.4(DSP):c.1443G>A (p.Glu481=) rs149126992 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_032578.4(MYPN):c.2565-7C>T rs373241021 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_182914.3(SYNE2):c.12492+12C>T rs368374335 0.00004
NM_000117.3(EMD):c.399+10C>T rs375654959 0.00003
NM_000257.4(MYH7):c.1608G>A (p.Glu536=) rs397516115 0.00003
NM_000257.4(MYH7):c.895+12C>T rs186276057 0.00003
NM_000335.5(SCN5A):c.1557T>C (p.Ser519=) rs371560571 0.00003
NM_000371.4(TTR):c.-15C>T rs746692906 0.00003
NM_000371.4(TTR):c.70-20C>T rs773578107 0.00003
NM_000432.4(MYL2):c.375G>A (p.Thr125=) rs190020833 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_001035.3(RYR2):c.3214+7T>G rs748941127 0.00003
NM_001103.4(ACTN2):c.2676C>T (p.Ser892=) rs397516578 0.00003
NM_001122630.2(CDKN1C):c.105G>A (p.Leu35=) rs762337324 0.00003
NM_001122630.2(CDKN1C):c.225G>C (p.Ser75=) rs1015104953 0.00003
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) rs577194741 0.00003
NM_001267550.2(TTN):c.105141G>A (p.Glu35047=) rs752897450 0.00003
NM_001267550.2(TTN):c.13371C>T (p.Ile4457=) rs570991398 0.00003
NM_001267550.2(TTN):c.39895+16del rs761838184 0.00003
NM_001267550.2(TTN):c.44916T>A (p.Val14972=) rs373390402 0.00003
NM_001267550.2(TTN):c.55206C>A (p.Ile18402=) rs368272978 0.00003
NM_001267550.2(TTN):c.57848-4G>A rs369462016 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002471.4(MYH6):c.5367G>A (p.Glu1789=) rs753335327 0.00003
NM_003239.5(TGFB3):c.591C>T (p.Ala197=) rs375090568 0.00003
NM_004006.3(DMD):c.1462C>T (p.Arg488Cys) rs758932385 0.00003
NM_004006.3(DMD):c.6726A>G (p.Lys2242=) rs145993057 0.00003
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_007078.3(LDB3):c.1962G>A (p.Glu654=) rs201063130 0.00003
NM_016203.4(PRKAG2):c.297C>T (p.Pro99=) rs767950372 0.00003
NM_024422.6(DSC2):c.630+19G>A rs750910749 0.00003
NM_032578.4(MYPN):c.3006C>T (p.Cys1002=) rs1321971649 0.00003
NM_032578.4(MYPN):c.3441C>T (p.Ile1147=) rs759420426 0.00003
NM_133379.5(TTN):c.14790C>G (p.Val4930=) rs370038956 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_000018.4(ACADVL):c.858G>A (p.Arg286=) rs531514327 0.00002
NM_000218.3(KCNQ1):c.1795-10G>A rs780067234 0.00002
NM_000218.3(KCNQ1):c.345G>A (p.Glu115=) rs758960211 0.00002
NM_000256.3(MYBPC3):c.1563C>T (p.Asp521=) rs367915627 0.00002
NM_000256.3(MYBPC3):c.1830C>T (p.Asp610=) rs768049705 0.00002
NM_000257.4(MYH7):c.4641C>T (p.Ala1547=) rs376854724 0.00002
NM_000257.4(MYH7):c.4953+14G>A rs758571263 0.00002
NM_000335.5(SCN5A):c.1677A>G (p.Thr559=) rs376389170 0.00002
NM_000335.5(SCN5A):c.1992C>T (p.Ser664=) rs368167264 0.00002
NM_000371.4(TTR):c.78T>C (p.Gly26=) rs779457244 0.00002
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 0.00002
NM_001035.3(RYR2):c.11982G>A (p.Thr3994=) rs368634803 0.00002
NM_001035.3(RYR2):c.8742G>A (p.Thr2914=) rs751520306 0.00002
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys) rs587753056 0.00002
NM_001122630.2(CDKN1C):c.51C>T (p.Ser17=) rs1216953646 0.00002
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=) rs1481403925 0.00002
NM_001267550.2(TTN):c.1332C>T (p.Ser444=) rs759520186 0.00002
NM_001267550.2(TTN):c.2160T>G (p.Pro720=) rs776860277 0.00002
NM_001267550.2(TTN):c.36281-13A>T rs751095834 0.00002
NM_001267550.2(TTN):c.36532+13G>A rs758624046 0.00002
NM_001267550.2(TTN):c.43656G>A (p.Ser14552=) rs376851369 0.00002
NM_001267550.2(TTN):c.5583C>T (p.Arg1861=) rs368972275 0.00002
NM_001267550.2(TTN):c.60003G>A (p.Pro20001=) rs753118050 0.00002
NM_001267550.2(TTN):c.63793+9del rs771033923 0.00002
NM_001267550.2(TTN):c.80898T>C (p.Ser26966=) rs374042845 0.00002
NM_001267550.2(TTN):c.84633T>C (p.Asp28211=) rs1211159517 0.00002
NM_001458.5(FLNC):c.5580C>G (p.Arg1860=) rs955205184 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002471.4(MYH6):c.3477G>A (p.Thr1159=) rs573242724 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_003673.4(TCAP):c.267G>A (p.Leu89=) rs1419129039 0.00002
NM_004006.3(DMD):c.2842A>G (p.Met948Val) rs186628781 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004281.4(BAG3):c.1239C>T (p.Ala413=) rs201137108 0.00002
NM_004281.4(BAG3):c.897C>T (p.Val299=) rs763915884 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_004415.4(DSP):c.5193C>T (p.Tyr1731=) rs201663619 0.00002
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484 0.00002
NM_006073.4(TRDN):c.931+10T>A rs754118635 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=) rs1336342134 0.00002
NM_022114.4(PRDM16):c.1116G>A (p.Gly372=) rs757093442 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_000117.3(EMD):c.400-6C>T rs782396776 0.00001
NM_000152.5(GAA):c.1551+12C>A rs937342824 0.00001
NM_000152.5(GAA):c.1637-11G>A rs557695694 0.00001
NM_000152.5(GAA):c.2041-13G>A rs1450561353 0.00001
NM_000152.5(GAA):c.2619C>T (p.Tyr873=) rs1555603132 0.00001
NM_000152.5(GAA):c.783C>T (p.Ala261=) rs757356178 0.00001
NM_000218.3(KCNQ1):c.1377C>T (p.Asp459=) rs200418488 0.00001
NM_000218.3(KCNQ1):c.1686-18C>G rs1846715620 0.00001
NM_000218.3(KCNQ1):c.604+12C>T rs370821907 0.00001
NM_000256.3(MYBPC3):c.1935C>T (p.Pro645=) rs727503193 0.00001
NM_000256.3(MYBPC3):c.681C>T (p.Thr227=) rs756894628 0.00001
NM_000257.4(MYH7):c.1257+7C>A rs759480696 0.00001
NM_000257.4(MYH7):c.3711G>A (p.Gln1237=) rs1361182615 0.00001
NM_000257.4(MYH7):c.4353+20C>T rs199912646 0.00001
NM_000257.4(MYH7):c.5661G>A (p.Glu1887=) rs730880727 0.00001
NM_000258.3(MYL3):c.507G>A (p.Val169=) rs1166390418 0.00001
NM_000335.5(SCN5A):c.2694G>A (p.Glu898=) rs2061655979 0.00001
NM_000335.5(SCN5A):c.786C>T (p.Ser262=) rs753246399 0.00001
NM_000371.4(TTR):c.121C>A (p.Arg41=) rs1004021945 0.00001
NM_000371.4(TTR):c.408T>C (p.Tyr136=) rs1454790119 0.00001
NM_000371.4(TTR):c.40C>T (p.Leu14=) rs1347695561 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001018005.2(TPM1):c.563+6C>T rs397516378 0.00001
NM_001018005.2(TPM1):c.852-5C>T rs766724527 0.00001
NM_001018005.2(TPM1):c.93G>C (p.Ala31=) rs770661916 0.00001
NM_001035.3(RYR2):c.1320G>A (p.Ala440=) rs887478410 0.00001
NM_001035.3(RYR2):c.13734G>A (p.Leu4578=) rs1268914442 0.00001
NM_001035.3(RYR2):c.14151C>T (p.Asn4717=) rs1479892874 0.00001
NM_001035.3(RYR2):c.5664G>C (p.Arg1888=) rs758277755 0.00001
NM_001079802.2(FKTN):c.1299G>A (p.Thr433=) rs912930168 0.00001
NM_001079802.2(FKTN):c.1311G>A (p.Lys437=) rs904253784 0.00001
NM_001103.4(ACTN2):c.1305A>G (p.Thr435=) rs12043223 0.00001
NM_001103.4(ACTN2):c.1857C>A (p.Pro619=) rs1659474774 0.00001
NM_001103.4(ACTN2):c.2475C>T (p.Thr825=) rs758805815 0.00001
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=) rs727503114 0.00001
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=) rs199593652 0.00001
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122630.2(CDKN1C):c.354C>T (p.Leu118=) rs1426804435 0.00001
NM_001122630.2(CDKN1C):c.564C>T (p.Ala188=) rs1554937891 0.00001
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=) rs1060504913 0.00001
NM_001159699.2(FHL1):c.189C>T (p.Ile63=) rs1424503926 0.00001
NM_001267550.2(TTN):c.11085C>T (p.His3695=) rs774236128 0.00001
NM_001267550.2(TTN):c.15981C>T (p.Asp5327=) rs1278975928 0.00001
NM_001267550.2(TTN):c.17733T>C (p.Asn5911=) rs912253842 0.00001
NM_001267550.2(TTN):c.18150A>G (p.Lys6050=) rs991259759 0.00001
NM_001267550.2(TTN):c.19426+7A>G rs756760290 0.00001
NM_001267550.2(TTN):c.24207A>G (p.Ser8069=) rs370099448 0.00001
NM_001267550.2(TTN):c.24453C>T (p.Leu8151=) rs772386098 0.00001
NM_001267550.2(TTN):c.30414T>C (p.Asn10138=) rs878990074 0.00001
NM_001267550.2(TTN):c.30927G>A (p.Glu10309=) rs1015963344 0.00001
NM_001267550.2(TTN):c.34787-16C>T rs191530616 0.00001
NM_001267550.2(TTN):c.3876A>G (p.Gly1292=) rs755784209 0.00001
NM_001267550.2(TTN):c.40408+20A>G rs750616546 0.00001
NM_001267550.2(TTN):c.41810C>T (p.Ala13937Val) rs545806408 0.00001
NM_001267550.2(TTN):c.4314C>T (p.Ser1438=) rs764817754 0.00001
NM_001267550.2(TTN):c.49287C>T (p.Asn16429=) rs763809932 0.00001
NM_001267550.2(TTN):c.50076C>T (p.Asp16692=) rs397517598 0.00001
NM_001267550.2(TTN):c.60027C>T (p.Ile20009=) rs368279024 0.00001
NM_001267550.2(TTN):c.60195C>A (p.Ile20065=) rs990501984 0.00001
NM_001267550.2(TTN):c.65565C>T (p.Leu21855=) rs367880653 0.00001
NM_001267550.2(TTN):c.65799C>T (p.Asp21933=) rs370123011 0.00001
NM_001267550.2(TTN):c.73149G>A (p.Ser24383=) rs564938876 0.00001
NM_001267550.2(TTN):c.81168T>C (p.Ser27056=) rs767101518 0.00001
NM_001267550.2(TTN):c.82641A>G (p.Glu27547=) rs372153745 0.00001
NM_001267550.2(TTN):c.83766T>C (p.Thr27922=) rs757873540 0.00001
NM_001267550.2(TTN):c.85768C>A (p.Arg28590=) rs748689777 0.00001
NM_001267550.2(TTN):c.93868C>T (p.Leu31290=) rs557737090 0.00001
NM_001267550.2(TTN):c.94620C>A (p.Gly31540=) rs746325775 0.00001
NM_001267550.2(TTN):c.94740T>C (p.Tyr31580=) rs1359929309 0.00001
NM_001267550.2(TTN):c.9486G>A (p.Gln3162=) rs768927616 0.00001
NM_001267550.2(TTN):c.97194C>T (p.Asp32398=) rs768594716 0.00001
NM_001267550.2(TTN):c.97419T>C (p.Arg32473=) rs1317447790 0.00001
NM_001267550.2(TTN):c.98238T>C (p.Ser32746=) rs879159807 0.00001
NM_001276345.2(TNNT2):c.450C>T (p.Ile150=) rs200604266 0.00001
NM_001458.5(FLNC):c.2307G>A (p.Val769=) rs906089015 0.00001
NM_001458.5(FLNC):c.5043G>A (p.Thr1681=) rs200405579 0.00001
NM_001458.5(FLNC):c.5842+12G>A rs745604311 0.00001
NM_001458.5(FLNC):c.7449C>T (p.Asn2483=) rs761006044 0.00001
NM_001927.4(DES):c.1272T>C (p.Ser424=) rs370720293 0.00001
NM_001943.5(DSG2):c.1652-8C>T rs770497608 0.00001
NM_001943.5(DSG2):c.2742T>C (p.Ser914=) rs529198523 0.00001
NM_001943.5(DSG2):c.2750C>T (p.Ala917Val) rs775670183 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_002471.4(MYH6):c.2664C>T (p.Asp888=) rs755699724 0.00001
NM_002471.4(MYH6):c.3189G>C (p.Leu1063=) rs745729273 0.00001
NM_002471.4(MYH6):c.3393G>A (p.Arg1131=) rs529107714 0.00001
NM_002471.4(MYH6):c.4504C>A (p.Arg1502=) rs773631723 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_003239.5(TGFB3):c.294G>A (p.Ser98=) rs778214495 0.00001
NM_004006.3(DMD):c.2381-7T>G rs1201559737 0.00001
NM_004100.5(EYA4):c.1494C>T (p.Asn498=) rs748934740 0.00001
NM_004100.5(EYA4):c.1840-16T>G rs1039495587 0.00001
NM_004168.4(SDHA):c.585G>C (p.Arg195=) rs766339992 0.00001
NM_004168.4(SDHA):c.954C>T (p.Leu318=) rs1412623947 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_004415.4(DSP):c.1545G>A (p.Pro515=) rs747953037 0.00001
NM_004415.4(DSP):c.1860G>A (p.Gln620=) rs762658467 0.00001
NM_004415.4(DSP):c.3843C>T (p.Gly1281=) rs757848395 0.00001
NM_004415.4(DSP):c.3864G>A (p.Lys1288=) rs768166626 0.00001
NM_004415.4(DSP):c.6441C>A (p.Val2147=) rs762513279 0.00001
NM_004415.4(DSP):c.8277C>T (p.Arg2759=) rs1248664648 0.00001
NM_004415.4(DSP):c.8508A>G (p.Gly2836=) rs754074127 0.00001
NM_004415.4(DSP):c.8511T>C (p.Ser2837=) rs757475874 0.00001
NM_004415.4(DSP):c.939+19G>T rs777724973 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_006073.4(TRDN):c.502G>A (p.Glu168Lys) rs545032318 0.00001
NM_007078.3(LDB3):c.328G>A (p.Ala110Thr) rs768737496 0.00001
NM_014000.3(VCL):c.2001G>A (p.Thr667=) rs747424067 0.00001
NM_014000.3(VCL):c.239+11G>A rs918332199 0.00001
NM_014000.3(VCL):c.3381T>C (p.Val1127=) rs943734765 0.00001
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=) rs746467455 0.00001
NM_020774.4(MIB1):c.228C>G (p.Thr76=) rs757518044 0.00001
NM_022114.4(PRDM16):c.1884C>T (p.Asp628=) rs762491643 0.00001
NM_024422.6(DSC2):c.2334C>T (p.Asn778=) rs1282599604 0.00001
NM_032578.4(MYPN):c.2704-13G>A rs1381527530 0.00001
NM_032578.4(MYPN):c.3159-19A>C rs754950593 0.00001
NM_033337.3(CAV3):c.60G>A (p.Lys20=) rs972788554 0.00001
NM_144573.4(NEXN):c.1413A>G (p.Arg471=) rs780858511 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_182961.4(SYNE1):c.24600C>T (p.Phe8200=) rs370421580 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_000018.4(ACADVL):c.1941G>A (p.Val647=) rs2142991254
NM_000152.5(GAA):c.138C>G (p.Ser46=) rs753375900
NM_000152.5(GAA):c.1437+15C>T rs2143867420
NM_000152.5(GAA):c.1637-10C>T rs2143881993
NM_000152.5(GAA):c.1941C>T (p.Cys647=) rs776948121
NM_000152.5(GAA):c.2043C>A (p.Pro681=) rs764174168
NM_000152.5(GAA):c.2289G>A (p.Val763=) rs767871949
NM_000152.5(GAA):c.858+8_858+10delinsAGCGGGCGGT rs1555599729
NM_000157.4(GBA1):c.*92G>A
NM_000182.5(HADHA):c.157C>A (p.Arg53=) rs147103714
NM_000256.3(MYBPC3):c.1521G>A (p.Gly507=) rs1235816440
NM_000256.3(MYBPC3):c.1578A>G (p.Ala526=) rs766721220
NM_000256.3(MYBPC3):c.1624+13G>A rs397515913
NM_000256.3(MYBPC3):c.2784G>A (p.Ser928=) rs372510974
NM_000256.3(MYBPC3):c.372C>A (p.Ala124=) rs11570046
NM_000256.3(MYBPC3):c.450C>G (p.Pro150=) rs377520770
NM_000257.4(MYH7):c.3177G>T (p.Leu1059=) rs746453011
NM_000257.4(MYH7):c.3237G>C (p.Arg1079=) rs1272236852
NM_000257.4(MYH7):c.3324C>T (p.Leu1108=) rs933857323
NM_000257.4(MYH7):c.3942C>T (p.Asp1314=) rs921429381
NM_000257.4(MYH7):c.396G>T (p.Pro132=) rs138932714
NM_000257.4(MYH7):c.4188G>T (p.Arg1396=) rs200852418
NM_000257.4(MYH7):c.4251C>G (p.Thr1417=) rs763934978
NM_000257.4(MYH7):c.4953+13A>T rs373509029
NM_000257.4(MYH7):c.5533C>A (p.Arg1845=) rs28933098
NM_000335.5(SCN5A):c.168G>A (p.Leu56=) rs376742447
NM_000335.5(SCN5A):c.795C>T (p.Ala265=) rs527692731
NM_000371.4(TTR):c.-743A>T rs3794885
NM_000371.4(TTR):c.141T>C (p.Asn47=) rs1252826226
NM_000371.4(TTR):c.70-19G>A rs548935944
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_001001430.3(TNNT2):c.68-1623_68-1621delinsTT rs397516362
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.7343-9C>T rs372778902
NM_001035.3(RYR2):c.9318T>G (p.Ser3106=) rs2797436
NM_001079802.2(FKTN):c.1044+17G>C rs200801909
NM_001103.4(ACTN2):c.1794G>C (p.Pro598=) rs137890030
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=) rs782796474
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser) rs529185662
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg) rs147078770
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_001122630.2(CDKN1C):c.567_596dup (p.186_187AP[15]) rs1064792990
NM_001122630.2(CDKN1C):c.587_616dup (p.186_187AP[15]) rs878853638
NM_001122630.2(CDKN1C):c.828G>C (p.Ser276=) rs373252940
NM_001134363.3(RBM20):c.936G>T (p.Leu312=) rs1283162002
NM_001232.4(CASQ2):c.738-11_738-5del rs56889721
NM_001267550.2(TTN):c.100171+16_100171+17insA rs2154137874
NM_001267550.2(TTN):c.107681-18dup rs148707308
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.12564C>T (p.Ala4188=) rs547338168
NM_001267550.2(TTN):c.177C>T (p.Ser59=) rs191057824
NM_001267550.2(TTN):c.18114T>C (p.Thr6038=) rs1221916366
NM_001267550.2(TTN):c.21246C>T (p.Thr7082=) rs1553913320
NM_001267550.2(TTN):c.2226C>T (p.Ser742=) rs151025677
NM_001267550.2(TTN):c.25104C>T (p.Asp8368=) rs369089044
NM_001267550.2(TTN):c.27429T>C (p.Val9143=) rs753291492
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-4_30683-3del rs368277751
NM_001267550.2(TTN):c.33418+11del rs779637808
NM_001267550.2(TTN):c.34708+8C>A rs762808097
NM_001267550.2(TTN):c.34787-19del rs749050618
NM_001267550.2(TTN):c.35025G>A (p.Val11675=) rs1047010138
NM_001267550.2(TTN):c.36159G>C (p.Thr12053=) rs773862719
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.40057+10A>G rs1576917346
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.46170G>A (p.Pro15390=) rs747163190
NM_001267550.2(TTN):c.4814+9G>C rs768137657
NM_001267550.2(TTN):c.51570T>G (p.Gly17190=) rs876657607
NM_001267550.2(TTN):c.60490G>C (p.Val20164Leu) rs72646843
NM_001267550.2(TTN):c.60576A>C (p.Ser20192=) rs778528252
NM_001267550.2(TTN):c.61098C>T (p.Cys20366=) rs755233818
NM_001267550.2(TTN):c.66054G>A (p.Glu22018=) rs727503579
NM_001267550.2(TTN):c.66528T>G (p.Ser22176=) rs1553626322
NM_001267550.2(TTN):c.66624A>G (p.Leu22208=) rs2047769242
NM_001267550.2(TTN):c.68235T>C (p.Asp22745=) rs757244505
NM_001267550.2(TTN):c.70377T>C (p.Pro23459=) rs768458635
NM_001267550.2(TTN):c.72645T>G (p.Leu24215=) rs1218286270
NM_001267550.2(TTN):c.91271-20C>A rs1461887959
NM_001267550.2(TTN):c.93663C>T (p.Thr31221=) rs1489398531
NM_001267550.2(TTN):c.93939C>T (p.Thr31313=) rs771653811
NM_001276345.2(TNNT2):c.321G>A (p.Lys107=) rs397516459
NM_001289808.2(CRYAB):c.324+13dup rs782303631
NM_001368067.1(LDB3):c.849C>T (p.Ser283=) rs1846156972
NM_001458.5(FLNC):c.2008-6G>A rs577813339
NM_001458.5(FLNC):c.6135G>C (p.Arg2045=) rs1585168080
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) rs2128940705
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_002471.4(MYH6):c.3979-11_3979-9delinsG rs368229372
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7_3979-4del rs745326238
NM_002471.4(MYH6):c.3979-8C>T rs555976716
NM_002471.4(MYH6):c.4360-7C>T rs58949384
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_003239.5(TGFB3):c.353-14_353-10del rs1422599707
NM_004006.3(DMD):c.10554-29_10554-20del rs200138464
NM_004006.3(DMD):c.11031A>G (p.Gly3677=) rs2147665754
NM_004006.3(DMD):c.2328A>G (p.Lys776=) rs1603634973
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004415.4(DSP):c.2091A>T (p.Gly697=) rs2076304
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.5116C>T (p.Leu1706=) rs1759432452
NM_004415.4(DSP):c.6441C>T (p.Val2147=) rs762513279
NM_004415.4(DSP):c.78G>T (p.Leu26=) rs71559180
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005159.5(ACTC1):c.809-58TG[29] rs59431308
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_006073.4(TRDN):c.233-14_233-13del rs66509682
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_007078.3(LDB3):c.672T>C (p.Gly224=) rs2132373056
NM_014000.3(VCL):c.169-11del rs753900484
NM_016203.4(PRKAG2):c.1106+19del rs374874465
NM_016599.5(MYOZ2):c.-15+11dup rs58371596
NM_020297.4(ABCC9):c.4450-6_4450-5del rs4148680
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_182914.3(SYNE2):c.16479+15T>G rs80199180
NM_182961.4(SYNE1):c.3837+9G>A rs756594812

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.