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:
ClinVar version:

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
13655 1478 1 169 132 0 35 337

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 21 2 1 0
likely pathogenic 21 1 32 0 0
uncertain significance 2 32 0 121 9
likely benign 1 0 123 0 145
benign 0 0 9 148 0

Condition to condition summary #

Total conditions: 4
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 13667 1471 1 166 130 0 35 332
Arrhythmogenic right ventricular dysplasia 1 0 8 0 2 2 0 0 4
Cardiomyopathy; Supraventricular tachycardia 0 0 0 1 0 0 0 1
Wolff-Parkinson-White pattern; Hypertrophic cardiomyopathy 0 1 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 337
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 0.01671
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 0.01077
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
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_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
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_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_000256.3(MYBPC3):c.3004C>T (p.Arg1002Trp) rs3729799 0.00223
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.10324-4A>G rs72751287 0.00203
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00177
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_016203.4(PRKAG2):c.298G>A (p.Gly100Ser) rs79474211 0.00144
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
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_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_004415.4(DSP):c.2986-6T>A rs144748036 0.00108
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001267550.2(TTN):c.18325A>G (p.Lys6109Glu) rs73973139 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 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 0.00086
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
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_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_016203.4(PRKAG2):c.250C>T (p.Arg84Trp) rs61746358 0.00056
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00055
NM_000256.3(MYBPC3):c.3672C>T (p.Asp1224=) rs368221517 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_016203.4(PRKAG2):c.712G>A (p.Ala238Thr) rs200736454 0.00051
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
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 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_001035.3(RYR2):c.6337G>A (p.Val2113Met) rs186906598 0.00045
NM_024422.6(DSC2):c.2497C>T (p.Arg833Cys) rs142410803 0.00045
NM_001267550.2(TTN):c.14911T>G (p.Cys4971Gly) rs537312655 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) rs183262122 0.00040
NM_000256.3(MYBPC3):c.1544A>G (p.Asn515Ser) rs181834806 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
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_016203.4(PRKAG2):c.251G>A (p.Arg84Gln) rs201953758 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_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_144573.4(NEXN):c.1788T>G (p.Ser596Arg) rs199738750 0.00029
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_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 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_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 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_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_016203.4(PRKAG2):c.1585-4G>A rs373649956 0.00023
NM_004415.4(DSP):c.2422C>T (p.Arg808Cys) rs150339369 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.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr) rs104894363 0.00020
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00019
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_001267550.2(TTN):c.1709C>T (p.Ala570Val) rs146690035 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 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_004415.4(DSP):c.4775A>G (p.Lys1592Arg) rs200421954 0.00016
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 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_000257.4(MYH7):c.4170-8C>A rs199632504 0.00014
NM_001035.3(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676 0.00014
NM_001035.3(RYR2):c.4747C>T (p.Pro1583Ser) rs200070226 0.00014
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
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_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_004415.4(DSP):c.3646A>G (p.Ile1216Val) rs199795359 0.00011
NM_001018005.2(TPM1):c.522C>T (p.Ser174=) rs200173919 0.00010
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 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_001276345.2(TNNT2):c.720-4G>T rs201753429 0.00009
NM_001035.3(RYR2):c.4101A>G (p.Lys1367=) rs376792533 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_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
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.1322C>T (p.Thr441Met) rs121913653 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_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.3190+4C>T rs571457875 0.00005
NM_000256.3(MYBPC3):c.534G>T (p.Val178=) rs759249105 0.00005
NM_004415.4(DSP):c.5555G>A (p.Arg1852His) rs193922669 0.00005
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_000256.3(MYBPC3):c.1370C>T (p.Thr457Met) rs370538243 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.503-5C>T rs397516236 0.00004
NM_000258.3(MYL3):c.367A>G (p.Lys123Glu) rs536445081 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_001018005.2(TPM1):c.851+7G>A rs765721221 0.00004
NM_001035.3(RYR2):c.4875G>A (p.Leu1625=) rs369323506 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_001943.5(DSG2):c.2470C>T (p.Arg824Cys) rs201845396 0.00004
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024422.6(DSC2):c.669A>G (p.Pro223=) rs923697621 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
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 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_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) rs782010849 0.00003
NM_001276345.2(TNNT2):c.460C>T (p.Arg154Trp) rs483352832 0.00003
NM_004415.4(DSP):c.1743C>T (p.Ala581=) rs139095230 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_016203.4(PRKAG2):c.1053G>A (p.Glu351=) rs767902787 0.00003
NM_016203.4(PRKAG2):c.1234-6G>A rs780341115 0.00003
NM_000256.3(MYBPC3):c.1351+4G>A 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_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.75C>T (p.Ser25=) rs1368122828 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.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.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.925G>A (p.Asp309Asn) rs730880923 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_000432.4(MYL2):c.355G>A (p.Val119Ile) rs730880940 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001943.5(DSG2):c.2339C>T (p.Ala780Val) rs547406532 0.00002
NM_004415.4(DSP):c.3282G>A (p.Lys1094=) rs2491080 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_000256.3(MYBPC3):c.1038C>T (p.Arg346=) rs758016271 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.1458-5G>A rs746542705 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 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.651C>T (p.Ser217=) rs1199611247 0.00001
NM_000257.4(MYH7):c.3147G>A (p.Glu1049=) rs1216521596 0.00001
NM_000257.4(MYH7):c.3975G>A (p.Ala1325=) rs1424491117 0.00001
NM_000257.4(MYH7):c.4588C>T (p.Arg1530Ter) rs397516225 0.00001
NM_000257.4(MYH7):c.4659C>T (p.His1553=) rs570079347 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.728G>A (p.Arg243His) rs267606910 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.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1426A>G (p.Ile476Val) rs763749576 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.774C>T (p.Asp258=) rs762282433 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.463+6C>T rs397516533 0.00001
NM_001035.3(RYR2):c.6346A>G (p.Thr2116Ala) rs780707255 0.00001
NM_001035.3(RYR2):c.7443A>G (p.Gln2481=) rs759314800 0.00001
NM_001035.3(RYR2):c.8736G>A (p.Leu2912=) rs762521873 0.00001
NM_001035.3(RYR2):c.8896-9T>C rs773401697 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.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.452G>A (p.Arg151Gln) rs730881101 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.269C>T (p.Thr90Ile) rs772744115 0.00001
NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met) rs943749481 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.531G>T (p.Leu177=) rs373000537 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024422.6(DSC2):c.474+5C>T rs397517400 0.00001
NM_170707.4(LMNA):c.1699-8C>G rs727503137 0.00001
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.1224-61_1224-53dup rs1565628380
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) rs397515905
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
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.3229G>A (p.Ala1077Thr) rs397516009
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.909C>T (p.Asp303=) rs200713257
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.2631G>C (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2779G>T (p.Glu927Ter)
NM_000257.4(MYH7):c.2821C>T (p.Arg941Cys) rs750435648
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
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>G (p.Ala57Gly) rs139794067
NM_000258.3(MYL3):c.411G>T (p.Leu137=) rs2233265
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.14757-7_14757-6delinsAT rs727504630
NM_001035.3(RYR2):c.5241C>G (p.Gly1747=) rs533362755
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
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.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.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.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.1038C>T (p.Ser346=) rs748062476
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_016203.4(PRKAG2):c.248C>T (p.Pro83Leu) rs757900380
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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