ClinVar Miner

Variants with conflicting interpretations studied for Cardiomyopathy

Coded as:
Minimum review status of the submission for Cardiomyopathy: Collection method of the submission for Cardiomyopathy:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
17171 1703 0 193 180 0 44 414

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All conditions
Cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 40 5 1 0
likely pathogenic 40 0 40 1 0
uncertain significance 5 40 0 174 6
likely benign 1 1 174 0 150
benign 0 0 6 153 0

Condition to condition summary #

Total conditions: 3
Download table as spreadsheet
Condition Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic) 		Variants with a confidence conflict
(e.g. benign vs likely benign) 		Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects) 		Variants with a clinically significant conflict
(e.g. benign vs pathogenic) 		Variants with any conflict
Cardiomyopathy 17177 1700 0 190 180 0 44 411
Arrhythmogenic right ventricular dysplasia 1 0 3 0 2 0 0 0 2
Cardiomyopathy; Supraventricular tachycardia 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 414
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01591
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01016
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.00942
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00529
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00524
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00508
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00411
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00386
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00382
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00302
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00243
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00230
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00199
NM_001943.5(DSG2):c.2484T>C (p.Asp828=) rs201051252 0.00199
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys) rs142429411 0.00196
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00166
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
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.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00129
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00123
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00122
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00116
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00111
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00105
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00098
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00098
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00093
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_000257.4(MYH7):c.930T>C (p.Tyr310=) rs111626355 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00087
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00086
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00085
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00071
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00067
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00066
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00061
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00061
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00057
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00051
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00051
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00047
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00044
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00040
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00038
NM_001943.5(DSG2):c.1781T>C (p.Leu594Pro) rs199681901 0.00038
NM_001943.5(DSG2):c.3266G>A (p.Gly1089Asp) rs200264407 0.00038
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val) rs370412052 0.00036
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00036
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 0.00034
NM_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 0.00034
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
NM_004415.4(DSP):c.273+5G>A rs200473206 0.00028
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00027
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00027
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_024422.6(DSC2):c.631-13dup rs551337657 0.00026
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_001035.3(RYR2):c.2574G>A (p.Thr858=) rs367992907 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_024422.6(DSC2):c.1729A>G (p.Ile577Val) rs201845641 0.00025
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_001035.3(RYR2):c.3720C>T (p.Ala1240=) rs750335699 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr) rs397515985 0.00021
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00021
NM_016203.4(PRKAG2):c.521C>T (p.Thr174Met) rs148056866 0.00021
NM_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00019
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000256.3(MYBPC3):c.74G>A (p.Ser25Asn) rs371140684 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00018
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00015
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00015
NM_001943.5(DSG2):c.875G>A (p.Arg292His) rs185821167 0.00015
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly) rs201240745 0.00015
NM_000256.3(MYBPC3):c.2460G>A (p.Arg820=) rs532996422 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001035.3(RYR2):c.11811C>T (p.His3937=) rs370924416 0.00013
NM_001035.3(RYR2):c.3153C>T (p.Arg1051=) rs397516524 0.00013
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_001035.3(RYR2):c.6280G>A (p.Gly2094Ser) rs777365708 0.00012
NM_004415.4(DSP):c.3562T>C (p.Tyr1188His) rs141508330 0.00012
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001276345.2(TNNT2):c.208A>G (p.Met70Val) rs141837529 0.00011
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser) rs375679311 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_005159.5(ACTC1):c.130-9T>C rs147406641 0.00011
NM_000257.4(MYH7):c.4170-8C>A rs199632504 0.00010
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001035.3(RYR2):c.3883A>G (p.Ser1295Gly) rs200574919 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00010
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=) rs78843072 0.00010
NM_000257.4(MYH7):c.2183C>T (p.Ala728Val) rs121913644 0.00009
NM_000257.4(MYH7):c.2359C>T (p.Arg787Cys) rs145677314 0.00009
NM_004415.4(DSP):c.2799G>C (p.Leu933Phe) rs372922674 0.00009
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462 0.00008
NM_001035.3(RYR2):c.1454G>A (p.Arg485Gln) rs752144775 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001035.3(RYR2):c.9820A>G (p.Asn3274Asp) rs751551400 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024422.6(DSC2):c.23G>T (p.Gly8Val) rs794728063 0.00008
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met) rs370538243 0.00007
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533 0.00007
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00007
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00007
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.3814G>A (p.Asp1272Asn) rs730880906 0.00006
NM_000432.4(MYL2):c.275-7G>A rs373241541 0.00006
NM_001018005.2(TPM1):c.27G>A (p.Gln9=) rs397516365 0.00006
NM_001035.3(RYR2):c.10725+4A>T rs116444428 0.00006
NM_001276345.2(TNNT2):c.601-8C>T rs397516475 0.00006
NM_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00006
NM_016203.4(PRKAG2):c.206C>T (p.Pro69Leu) rs182750960 0.00006
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00005
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn) rs397516211 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001035.3(RYR2):c.463+6C>T rs397516533 0.00004
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506 0.00004
NM_001276345.2(TNNT2):c.403G>A (p.Asp135Asn) rs765359025 0.00004
NM_001276345.2(TNNT2):c.720-5T>G rs730881092 0.00004
NM_001276345.2(TNNT2):c.720-7C>T rs376303087 0.00004
NM_001943.5(DSG2):c.1920C>T (p.Gly640=) rs775642244 0.00004
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024422.6(DSC2):c.397G>A (p.Ala133Thr) rs200218585 0.00004
NM_170707.4(LMNA):c.1931G>A (p.Arg644His) rs368386019 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NC_000011.10:g.47333340G>A rs373012629 0.00003
NC_000011.10:g.47346380G>A rs201078659 0.00003
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00003
NM_000256.3(MYBPC3):c.3154A>G (p.Met1052Val) rs730880589 0.00003
NM_000257.4(MYH7):c.3134G>A (p.Arg1045His) rs397516178 0.00003
NM_000257.4(MYH7):c.4772T>A (p.Leu1591Gln) rs730880808 0.00003
NM_000257.4(MYH7):c.503-5C>T rs397516236 0.00003
NM_000258.3(MYL3):c.92G>A (p.Arg31His) rs199639940 0.00003
NM_000363.5(TNNI3):c.-8G>A rs773513015 0.00003
NM_001035.3(RYR2):c.8209-4T>C rs371966353 0.00003
NM_001099404.2(SCN5A):c.615T>G (p.Tyr205Ter) rs765669597 0.00003
NM_001943.5(DSG2):c.3040G>A (p.Val1014Ile) rs200830807 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115 0.00003
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380 0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser) rs371797765 0.00003
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 0.00003
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala) rs201015785 0.00003
NC_000011.10:g.47343017C>T rs777487971 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000257.4(MYH7):c.3854-5C>T rs752385694 0.00002
NM_000257.4(MYH7):c.4557C>T (p.Ser1519=) rs150552664 0.00002
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 0.00002
NM_000257.4(MYH7):c.503-4A>G rs376022200 0.00002
NM_000257.4(MYH7):c.5484C>T (p.Ala1828=) rs202175645 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 0.00002
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu) rs536445081 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000363.5(TNNI3):c.151-6C>G rs377258542 0.00002
NM_000363.5(TNNI3):c.236G>T (p.Arg79Leu) rs397516342 0.00002
NM_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001035.3(RYR2):c.3423+6T>G rs1057521957 0.00002
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800 0.00002
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001943.5(DSG2):c.1481A>C (p.Asp494Ala) rs193298428 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 0.00002
NM_004415.4(DSP):c.4466T>G (p.Leu1489Arg) rs746782582 0.00002
NM_016203.4(PRKAG2):c.138G>A (p.Pro46=) rs767613486 0.00002
NM_016203.4(PRKAG2):c.685-5C>A rs779931367 0.00002
NM_024422.6(DSC2):c.20C>T (p.Ser7Phe) rs1227564823 0.00002
NC_000011.10:g.47342749C>T rs746542705 0.00001
NM_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271 0.00001
NM_000256.3(MYBPC3):c.1070G>A (p.Arg357His) rs199741162 0.00001
NM_000256.3(MYBPC3):c.1227-13G>A rs397515893 0.00001
NM_000256.3(MYBPC3):c.1282T>C (p.Leu428=) rs758253767 0.00001
NM_000256.3(MYBPC3):c.2034T>C (p.Ala678=) rs757832991 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220 0.00001
NM_000256.3(MYBPC3):c.3379C>T (p.Pro1127Ser) rs1488618086 0.00001
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105 0.00001
NM_000256.3(MYBPC3):c.651C>T (p.Ser217=) rs1199611247 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2137A>G (p.Ile713Val) rs1339799654 0.00001
NM_000257.4(MYH7):c.2424-5T>C rs397516146 0.00001
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596 0.00001
NM_000257.4(MYH7):c.3349G>T (p.Glu1117Ter) rs141735183 0.00001
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) rs546586969 0.00001
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=) rs1424491117 0.00001
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246 0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4992C>T (p.Asn1664=) rs763538103 0.00001
NM_000257.4(MYH7):c.5178G>A (p.Gln1726=) rs747252861 0.00001
NM_000257.4(MYH7):c.5655G>A (p.Ala1885=) rs753392652 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00001
NM_000363.5(TNNI3):c.15C>A (p.Ser5Arg) rs989588363 0.00001
NM_000363.5(TNNI3):c.421C>T (p.Arg141Trp) rs730881071 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.497C>T (p.Ser166Phe) rs727504242 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 0.00001
NM_001018005.2(TPM1):c.852-4G>A rs374970923 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001035.3(RYR2):c.13326C>T (p.Ala4442=) rs768161152 0.00001
NM_001035.3(RYR2):c.13656T>C (p.His4552=) rs397516512 0.00001
NM_001035.3(RYR2):c.2719-4T>A rs397516523 0.00001
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala) rs780707255 0.00001
NM_001035.3(RYR2):c.8896-9T>C rs773401697 0.00001
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849 0.00001
NM_001276345.2(TNNT2):c.121G>A (p.Asp41Asn) rs748078123 0.00001
NM_001276345.2(TNNT2):c.163+1G>T rs113051005 0.00001
NM_001276345.2(TNNT2):c.200-4C>G rs397516448 0.00001
NM_001276345.2(TNNT2):c.411C>T (p.Ile137=) rs727504322 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.2335-9T>C rs757355636 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 0.00001
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter) rs753052874 0.00001
NM_004415.4(DSP):c.2436+2T>C rs774514264 0.00001
NM_004415.4(DSP):c.4526G>A (p.Arg1509Lys) rs577061462 0.00001
NM_004415.4(DSP):c.5881G>A (p.Val1961Ile) rs368869076 0.00001
NM_004415.4(DSP):c.6038G>A (p.Arg2013Gln) rs557263443 0.00001
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00001
NM_016203.4(PRKAG2):c.531G>T (p.Leu177=) rs373000537 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024422.6(DSC2):c.1620C>G (p.Ile540Met) rs765374888 0.00001
NM_024422.6(DSC2):c.327A>G (p.Ile109Met) rs373305929 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
NC_000011.10:g.47332110del rs727503166
NC_000011.10:g.47332282_47332306del rs36212066
NC_000011.10:g.47347434del rs1555122928
NC_000011.10:g.47347670del rs727503212
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1483C>G (p.Arg495Gly) rs397515905
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1731G>A (p.Trp577Ter) rs730880546
NM_000256.3(MYBPC3):c.1827C>G (p.Ala609=) rs535853707
NM_000256.3(MYBPC3):c.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.223dup (p.Asp75fs) rs2095900669
NM_000256.3(MYBPC3):c.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000257.4(MYH7):c.1818G>C (p.Val606=) rs756461569
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2162+1G>A rs752554104
NM_000257.4(MYH7):c.225G>A (p.Gln75=) rs1595091114
NM_000257.4(MYH7):c.2424-6del rs748311799
NM_000257.4(MYH7):c.2424-8C>A rs767171610
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter) rs397516170
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys) rs750435648
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.3090A>C (p.Gln1030His) rs765570412
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.323G>A (p.Arg108His) rs730880832
NM_000257.4(MYH7):c.4506C>T (p.Asn1502=) rs2502249759
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.745C>T (p.Arg249Ter) rs730880852
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.466G>T (p.Val156Leu) rs199474707
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506
NM_000432.4(MYL2):c.308T>G (p.Phe103Cys) rs547860537
NM_000432.4(MYL2):c.431_432del (p.Pro144fs) rs1566147422
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000432.4(MYL2):c.92_93+1del rs751392310
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=) rs533362755
NM_001035.3(RYR2):c.8573TGGAGT[1] (p.Leu2860_Glu2861del) rs794728835
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001276345.2(TNNT2):c.236C>T (p.Ser79Leu) rs761953142
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.610-10C>T rs375547142
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs) rs397516706
NM_001943.5(DSG2):c.3175T>A (p.Ser1059Thr) rs201786158
NM_001943.5(DSG2):c.3266G>T (p.Gly1089Val) rs200264407
NM_001943.5(DSG2):c.829_840del (p.Leu277_Met280del) rs794728093
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_002667.5(PLN):c.63_64dup (p.Gln22fs) rs794729138
NM_004415.4(DSP):c.1266+6G>A rs73375345
NM_004415.4(DSP):c.1273C>T (p.Arg425Ter) rs397516915
NM_004415.4(DSP):c.1288G>T (p.Glu430Ter) rs761380979
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004415.4(DSP):c.5680_5683del (p.Ser1894fs) rs774763657
NM_004415.4(DSP):c.8508_8517delinsGTCCCGCAGT (p.Gly2836_Ser2839=) rs1561706189
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_016203.4(PRKAG2):c.1587C>G (p.Val529=) rs1563132006
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1749G>A (p.Ser583=) rs970494454
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.897C>T (p.Ile299=) rs762718963

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