ClinVar Miner

Variants from Stanford Center for Inherited Cardiovascular Disease, Stanford University with conflicting interpretations

Location: United States  Primary collection method: provider interpretation
Minimum review status of the submission from Stanford Center for Inherited Cardiovascular Disease, Stanford University: Collection method of the submission from Stanford Center for Inherited Cardiovascular Disease, Stanford University:
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
169 385 0 173 248 4 99 499

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 submitters
Stanford Center for Inherited Cardiovascular Disease, Stanford University pathogenic likely pathogenic uncertain significance likely benign benign drug response risk factor other
pathogenic 0 22 5 0 0 1 1 0
likely pathogenic 123 0 16 1 0 0 0 0
uncertain significance 21 64 0 225 70 1 1 0
likely benign 1 0 10 0 15 0 0 0
benign 1 0 4 13 0 0 0 1

Submitter to submitter summary #

Total submitters: 56
Download table as spreadsheet
Submitter 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
Ambry Genetics 0 395 0 91 182 0 40 313
GeneDx 0 420 0 117 111 0 49 277
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 81 0 10 87 0 4 101
CeGaT Center for Human Genetics Tuebingen 0 80 0 17 68 0 8 93
PreventionGenetics, part of Exact Sciences 0 63 0 24 53 0 4 81
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 69 0 27 40 0 9 76
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 155 0 5 51 0 11 67
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 63 0 15 41 0 5 61
Clinical Genetics, Academic Medical Center 0 67 0 17 40 0 3 60
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 21 0 7 38 0 3 48
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 73 0 16 28 0 2 46
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 43 0 8 32 0 3 43
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 32 0 7 26 0 2 35
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 22 0 1 28 0 0 29
Eurofins Ntd Llc (ga) 0 62 0 7 19 1 1 28
Athena Diagnostics 0 20 0 9 15 0 3 27
Revvity Omics, Revvity 0 61 0 18 5 0 4 27
Mayo Clinic Laboratories, Mayo Clinic 0 74 0 19 0 0 5 24
Blueprint Genetics 0 22 0 13 5 0 4 22
Clinical Genetics Laboratory, Skane University Hospital Lund 0 30 0 13 1 0 4 18
Labcorp Genetics (formerly Invitae), Labcorp 0 24 0 6 8 0 2 16
Breakthrough Genomics, Breakthrough Genomics 0 10 0 6 9 0 0 15
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 7 0 1 12 0 0 13
AiLife Diagnostics, AiLife Diagnostics 0 36 0 8 0 0 5 13
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 7 0 2 7 0 0 9
Illumina Laboratory Services, Illumina 0 9 0 2 5 0 1 8
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 13 0 7 0 0 1 8
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 8 0 6 0 0 0 6
Quest Diagnostics Nichols Institute San Juan Capistrano 0 15 0 3 2 0 0 5
OMIM 0 5 0 0 0 2 2 4
Forensic Genetics Laboratory, Harris County Institute of Forensic Sciences 0 0 0 0 0 0 4 4
Genetic Services Laboratory, University of Chicago 0 6 0 1 2 0 0 3
Institute of Human Genetics, University Hospital Muenster 0 3 0 3 0 0 0 3
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 0 0 1 1 0 0 2
Center for Personalized Medicine, Children's Hospital Los Angeles 0 2 0 1 0 0 1 2
Klaassen Lab, Charite University Medicine Berlin 0 1 0 2 0 0 0 2
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego 0 0 0 0 2 0 0 2
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 5 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 1 0 0 1
PharmGKB 0 0 0 0 0 1 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 1 0 0 0 0 1 1
CSER _CC_NCGL, University of Washington 0 3 0 0 0 0 1 1
Clinical Genetics and Genomics, Karolinska University Hospital 0 1 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology, Centenary Institute 0 3 0 1 0 0 0 1
Albrecht-Kossel-Institute, Medical University Rostock 0 0 0 0 0 1 0 1
Petrovsky National Research Centre of Surgery, The Federal Agency for Scientific Organizations 0 1 0 0 0 0 1 1
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 0 0 0 0 0 1 1
NIHR Bioresource Rare Diseases, University of Cambridge 0 2 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine, Sinai Health System 0 2 0 0 1 0 0 1
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 4 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 5 0 1 0 0 0 1
Clinical Genomics Laboratory, Stanford Medicine 0 0 0 0 1 0 0 1
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 0 0 0 0 0 1 1
Human Genetics Bochum, Ruhr University Bochum 0 0 0 0 0 0 1 1
Biology Molecular and Stem Cell Facilities Laboratory, National Cardiovascular Center, Harapan Kita Hospital 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 499
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35431
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09513
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000152.5(GAA):c.271G>A (p.Asp91Asn) rs1800299 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln) rs138787771 0.00432
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00396
NM_006393.3(NEBL):c.180G>C (p.Lys60Asn) rs41277374 0.00382
NM_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 0.00338
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621 0.00326
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00302
NM_144573.4(NEXN):c.995A>C (p.Glu332Ala) rs201763096 0.00291
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_003803.4(MYOM1):c.2384+4A>T rs73373171 0.00286
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00261
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868 0.00247
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00220
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00199
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00149
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_001032283.3(TMPO):c.565+1696C>T rs141443652 0.00135
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00119
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_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00098
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00093
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00087
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00086
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719 0.00078
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00075
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00074
NM_024422.6(DSC2):c.304G>A (p.Glu102Lys) rs144799937 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) rs202238753 0.00066
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00064
NM_000642.3(AGL):c.334A>G (p.Ile112Val) rs147024351 0.00064
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00060
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu) rs41288783 0.00058
NM_001378454.1(ALMS1):c.8411G>A (p.Arg2804His) rs201252809 0.00057
NM_020297.4(ABCC9):c.2199-13G>A rs201226082 0.00056
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 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_001378454.1(ALMS1):c.9712C>T (p.Arg3238Cys) rs201252375 0.00053
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00052
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001035.3(RYR2):c.3320C>T (p.Thr1107Met) rs200236750 0.00051
NM_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 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_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_000335.5(SCN5A):c.3875T>C (p.Phe1292Ser) rs41311127 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001035.3(RYR2):c.3380A>G (p.Glu1127Gly) rs200525962 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00040
NM_014476.6(PDLIM3):c.715G>A (p.Asp239Asn) rs142143310 0.00040
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000432.4(MYL2):c.141C>A (p.Asn47Lys) rs199474808 0.00038
NM_006514.4(SCN10A):c.2441G>A (p.Arg814His) rs139861061 0.00037
NM_000218.3(KCNQ1):c.458C>T (p.Thr153Met) rs143709408 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00034
NM_001943.5(DSG2):c.716T>C (p.Val239Ala) rs200997703 0.00032
NM_006073.4(TRDN):c.367G>A (p.Asp123Asn) rs201021891 0.00032
NM_000152.5(GAA):c.841C>T (p.Arg281Trp) rs142967546 0.00031
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00031
NM_000337.6(SGCD):c.699+18C>G rs180898690 0.00031
NM_001267550.2(TTN):c.9487C>T (p.Arg3163Cys) rs140664731 0.00031
NM_002471.4(MYH6):c.292G>A (p.Glu98Lys) rs140596256 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00029
NM_006514.4(SCN10A):c.2428G>T (p.Gly810Trp) rs145712124 0.00029
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln) rs5742904 0.00028
NM_001035.3(RYR2):c.13291G>A (p.Glu4431Lys) rs571985775 0.00027
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00027
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_007078.3(LDB3):c.1051A>G (p.Thr351Ala) rs138251566 0.00026
NM_000256.3(MYBPC3):c.2873C>T (p.Thr958Ile) rs376504548 0.00025
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) rs201148126 0.00025
NM_005751.5(AKAP9):c.7488T>G (p.Asn2496Lys) rs201977551 0.00025
NM_005751.5(AKAP9):c.8677G>C (p.Asp2893His) rs142573103 0.00025
NM_014000.3(VCL):c.1294C>G (p.Leu432Val) rs144146254 0.00025
NM_172201.2(KCNE2):c.80G>A (p.Arg27His) rs148968498 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 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_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_024422.6(DSC2):c.2587G>A (p.Gly863Arg) rs147109895 0.00023
NM_006393.3(NEBL):c.1108C>A (p.Gln370Lys) rs146198369 0.00022
NM_003673.4(TCAP):c.458G>A (p.Arg153His) rs149585781 0.00021
NM_006393.3(NEBL):c.82-4A>G rs368268112 0.00021
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00021
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00019
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr) rs373946195 0.00019
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) rs397516625 0.00019
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_000117.3(EMD):c.272A>G (p.Asn91Ser) rs137977232 0.00018
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00018
NM_001148.6(ANK2):c.4310C>T (p.Thr1437Met) rs142534126 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_004281.4(BAG3):c.653G>A (p.Arg218Gln) rs201638005 0.00018
NM_004415.4(DSP):c.269A>G (p.Gln90Arg) rs188516326 0.00018
NM_007078.3(LDB3):c.1910C>T (p.Ala637Val) rs141569007 0.00018
NM_000335.5(SCN5A):c.80G>A (p.Arg27His) rs199473045 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_001035.3(RYR2):c.8145G>T (p.Glu2715Asp) rs200420897 0.00016
NM_004415.4(DSP):c.3706A>G (p.Arg1236Gly) rs377098318 0.00016
NM_004415.4(DSP):c.943C>T (p.Arg315Cys) rs200476515 0.00016
NM_006514.4(SCN10A):c.365C>T (p.Thr122Met) rs142884499 0.00016
NM_000257.4(MYH7):c.5562G>A (p.Thr1854=) rs368706722 0.00015
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00015
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_001035.3(RYR2):c.3251G>A (p.Arg1084Lys) rs193922624 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001943.5(DSG2):c.545A>G (p.Asn182Ser) rs368512832 0.00013
NM_004006.3(DMD):c.8312A>C (p.Asp2771Ala) rs376720228 0.00013
NM_005751.5(AKAP9):c.8189A>G (p.Gln2730Arg) rs80191629 0.00013
NM_006514.4(SCN10A):c.2816C>T (p.Pro939Leu) rs202174472 0.00013
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) rs147116577 0.00013
NM_016203.4(PRKAG2):c.130G>A (p.Ala44Thr) rs144857453 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly) rs200631005 0.00012
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) rs200112094 0.00012
NM_004415.4(DSP):c.1140+6T>C rs534740669 0.00012
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu) rs367729718 0.00011
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001035.3(RYR2):c.9655G>A (p.Val3219Met) rs371147744 0.00011
NM_001267550.2(TTN):c.91621G>A (p.Gly30541Arg) rs200854704 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) rs143031195 0.00011
NM_001103.4(ACTN2):c.690T>A (p.Asp230Glu) rs139489232 0.00010
NM_001267550.2(TTN):c.59729C>T (p.Thr19910Ile) rs369476725 0.00010
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00009
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00009
NM_001035.3(RYR2):c.2828T>C (p.Leu943Ser) rs373665895 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_024422.6(DSC2):c.2251-5T>G rs374262463 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00008
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000335.5(SCN5A):c.5333C>T (p.Thr1778Met) rs199473634 0.00008
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00008
NM_024422.6(DSC2):c.82G>T (p.Ala28Ser) rs139979318 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_001035.3(RYR2):c.9619A>G (p.Asn3207Asp) rs372601642 0.00007
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_000238.4(KCNH2):c.2780G>T (p.Trp927Leu) rs794728399 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys) rs730880575 0.00006
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044 0.00006
NM_000719.7(CACNA1C):c.3679G>A (p.Val1227Ile) rs373124557 0.00006
NM_001018008.2(TPM1):c.695G>A (p.Arg232His) rs730881128 0.00006
NM_001079802.2(FKTN):c.869A>T (p.Lys290Ile) rs755092516 0.00006
NM_001103.4(ACTN2):c.947T>C (p.Met316Thr) rs370757762 0.00006
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00006
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro) rs370644567 0.00006
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_000238.4(KCNH2):c.2665T>G (p.Leu889Val) rs765427343 0.00005
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg) rs121918593 0.00005
NM_001035.3(RYR2):c.13600C>T (p.Pro4534Ser) rs199624074 0.00005
NM_001148.6(ANK2):c.11354A>G (p.Gln3785Arg) rs150808807 0.00005
NM_001458.5(FLNC):c.7560C>T (p.Thr2520=) rs527921534 0.00005
NM_001927.4(DES):c.1371+1G>A rs748323823 0.00005
NM_003060.4(SLC22A5):c.1462C>T (p.Arg488Cys) rs377216516 0.00005
NM_005472.5(KCNE3):c.20C>T (p.Thr7Met) rs547194943 0.00005
NM_000218.3(KCNQ1):c.1394-1G>T rs775537394 0.00004
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln) rs397515885 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.5305C>A (p.Leu1769Met) rs139222507 0.00004
NM_000335.5(SCN5A):c.2102C>T (p.Pro701Leu) rs199473147 0.00004
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His) rs199473283 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_003098.3(SNTA1):c.820C>T (p.Arg274Trp) rs201763667 0.00004
NM_005751.5(AKAP9):c.5251C>T (p.Arg1751Cys) rs144269839 0.00004
NM_014476.6(PDLIM3):c.11C>T (p.Thr4Met) rs781358846 0.00004
NM_020297.4(ABCC9):c.3589C>T (p.Arg1197Cys) rs778849288 0.00004
NM_024422.6(DSC2):c.408A>G (p.Arg136=) rs561653481 0.00004
NM_000219.6(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514 0.00003
NM_000219.6(KCNE1):c.163G>A (p.Gly55Ser) rs199473644 0.00003
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00003
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916 0.00003
NM_000256.3(MYBPC3):c.3581C>T (p.Ala1194Val) rs730880594 0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_000257.4(MYH7):c.5507C>T (p.Ser1836Leu) rs727503242 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187 0.00003
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669 0.00003
NM_000719.7(CACNA1C):c.3946-45C>G rs201551454 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_001035.3(RYR2):c.10125A>G (p.Arg3375=) rs764396074 0.00003
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp) rs104894718 0.00003
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00003
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) rs755241667 0.00003
NM_001148.6(ANK2):c.10147G>A (p.Ala3383Thr) rs374257100 0.00003
NM_001378454.1(ALMS1):c.8920C>T (p.Pro2974Ser) rs1043429291 0.00003
NM_001943.5(DSG2):c.1303G>A (p.Asp435Asn) rs370509593 0.00003
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00003
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu) rs186842903 0.00003
NM_000169.3(GLA):c.868A>C (p.Met290Leu) rs375538532 0.00002
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr) rs199472813 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958 0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068 0.00002
NM_000256.3(MYBPC3):c.713G>A (p.Arg238His) rs727504396 0.00002
NM_000256.3(MYBPC3):c.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.4078G>A (p.Val1360Ile) rs373231077 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5704G>C (p.Glu1902Gln) rs187073962 0.00002
NM_000335.5(SCN5A):c.2014G>A (p.Ala672Thr) rs199473140 0.00002
NM_001458.5(FLNC):c.4636G>A (p.Gly1546Ser) rs774263134 0.00002
NM_004006.3(DMD):c.10889G>A (p.Arg3630Gln) rs1057522606 0.00002
NM_004415.4(DSP):c.3877A>G (p.Ile1293Val) rs376555665 0.00002
NM_033337.3(CAV3):c.442C>T (p.Arg148Trp) rs730880422 0.00002
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000218.3(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075 0.00001
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.1097G>A (p.Arg366Gln) rs199473410 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815 0.00001
NM_000218.3(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460 0.00001
NM_000218.3(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730 0.00001
NM_000238.4(KCNH2):c.2467C>T (p.Arg823Trp) rs199473538 0.00001
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.2490dup (p.His831fs) rs397515966 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.1954A>G (p.Arg652Gly) rs727504239 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 0.00001
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161 0.00001
NM_000257.4(MYH7):c.3551A>T (p.Gln1184Leu) rs546586969 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.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000258.3(MYL3):c.220G>A (p.Gly74Arg) rs730880956 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180 0.00001
NM_000335.5(SCN5A):c.4928G>A (p.Arg1643His) rs28937316 0.00001
NM_000335.5(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604 0.00001
NM_000335.5(SCN5A):c.5375T>A (p.Met1792Lys) rs794728897 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 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_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_000371.4(TTR):c.130C>T (p.Pro44Ser) rs11541790 0.00001
NM_000371.4(TTR):c.238A>G (p.Thr80Ala) rs121918070 0.00001
NM_000371.4(TTR):c.337-3T>C rs774027595 0.00001
NM_000371.4(TTR):c.349G>T (p.Ala117Ser) rs267607161 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_000527.4(LDLR):c.313+1G>A rs112029328 0.00001
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566 0.00001
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.299A>T (p.Asp100Val) rs879254460 0.00001
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370 0.00001
NM_000719.7(CACNA1C):c.2517C>A (p.Asn839Lys) rs774002530 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.64G>A (p.Ala22Thr) rs397516382 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001148.6(ANK2):c.9880A>C (p.Asn3294His) rs763211298 0.00001
NM_001267550.2(TTN):c.45307C>T (p.Arg15103Ter) rs397517580 0.00001
NM_001267550.2(TTN):c.47758A>C (p.Lys15920Gln) rs775513269 0.00001
NM_001267550.2(TTN):c.54166C>T (p.Arg18056Ter) rs768431507 0.00001
NM_001267550.2(TTN):c.90246A>G (p.Ile30082Met) rs886038812 0.00001
NM_001276345.2(TNNT2):c.418C>T (p.Arg140Cys) rs397516463 0.00001
NM_001276345.2(TNNT2):c.601-1G>A rs483352835 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys) rs121434526 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) rs761507504 0.00001
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) rs387906875 0.00001
NM_004415.4(DSP):c.3338G>A (p.Arg1113Gln) rs768455823 0.00001
NM_004415.4(DSP):c.3701A>G (p.Asn1234Ser) rs185367490 0.00001
NM_004415.4(DSP):c.6902T>C (p.Ile2301Thr) rs772381363 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_004982.4(KCNJ8):c.720G>A (p.Val240=) rs876661349 0.00001
NM_005751.5(AKAP9):c.2370G>A (p.Met790Ile) rs1298504605 0.00001
NM_005751.5(AKAP9):c.9881G>A (p.Arg3294Gln) rs752685614 0.00001
NM_007078.3(LDB3):c.550A>G (p.Lys184Glu) rs774886148 0.00001
NM_020433.5(JPH2):c.458T>C (p.Val153Ala) rs776045429 0.00001
NM_144670.6(A2ML1):c.2147A>G (p.Glu716Gly) rs770357451 0.00001
NM_170707.4(LMNA):c.1129C>T (p.Arg377Cys) rs397517889 0.00001
NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) rs60864230 0.00001
NM_170707.4(LMNA):c.646C>T (p.Arg216Cys) rs794728591 0.00001
NC_000011.10:g.47347670del rs727503212
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-TK):m.8342G>A rs118192103
NC_012920.1(MT-TQ):m.4363T>C rs200009705
NC_012920.1(MT-TS1):m.7468C>T rs111033173
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000169.3(GLA):c.1125_1140del (p.Val376fs) rs876661347
NM_000214.3(JAG1):c.1339T>C (p.Cys447Arg) rs863223651
NM_000218.3(KCNQ1):c.1031C>A (p.Ala344Glu) rs199472763
NM_000218.3(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.3(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.3(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.3(KCNQ1):c.1686-2A>G rs878854350
NM_000218.3(KCNQ1):c.565G>A (p.Gly189Arg) rs104894252
NM_000218.3(KCNQ1):c.573_577del (p.Arg192fs) rs397508118
NM_000218.3(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.3(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.3(KCNQ1):c.958C>T (p.Pro320Ser) rs199472753
NM_000218.3(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000238.4(KCNH2):c.1496T>G (p.Leu499Arg) rs794728370
NM_000238.4(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.4(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.4(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.4(KCNH2):c.2390C>A (p.Ala797Asp) rs794728389
NM_000238.4(KCNH2):c.3099_3109del (p.Pro1034fs) rs794728466
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1084dup (p.Ser362fs) rs730880723
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) rs730880712
NM_000256.3(MYBPC3):c.1838dup (p.Asp613fs) rs730880649
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2792dup (p.Lys932fs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834del (p.Arg945fs) rs397515987
NM_000256.3(MYBPC3):c.2869dup (p.Thr957fs) rs876661365
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.2942A>C (p.Gln981Pro) rs730880582
NM_000256.3(MYBPC3):c.3297dup (p.Tyr1100fs) rs397516014
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3584G>T (p.Gly1195Val) rs730880595
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.459del (p.Ile154fs) rs397516052
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000257.4(MYH7):c.1003G>C (p.Ala335Pro) rs727503272
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu) rs397516101
NM_000257.4(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2012G>A (p.Arg671His) rs730880883
NM_000257.4(MYH7):c.2153T>G (p.Phe718Cys) rs1060501432
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2213G>C (p.Ser738Thr) rs730880894
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2302G>A (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2497T>C (p.Tyr833His) rs730880746
NM_000257.4(MYH7):c.2593A>G (p.Lys865Glu) rs730880749
NM_000257.4(MYH7):c.2602G>C (p.Ala868Pro) rs727504356
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2858A>T (p.Asp953Val) rs730880901
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys) rs876657884
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.4(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.4(MYH7):c.676G>A (p.Ala226Thr) rs1057517773
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.773T>C (p.Leu258Ser) rs876661377
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000335.5(SCN5A):c.1993G>T (p.Ala665Ser) rs756474485
NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_000335.5(SCN5A):c.268C>A (p.Gln90Lys) rs794728839
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.5461_5464del (p.Glu1822fs) rs794728924
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.680T>C (p.Leu227Pro) rs760011764
NM_000363.5(TNNI3):c.204del (p.Arg69fs) rs727504872
NM_000363.5(TNNI3):c.302A>G (p.His101Arg) rs730881087
NM_000363.5(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.5(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000432.4(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.488A>G (p.Glu163Gly) rs397516407
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001018005.2(TPM1):c.115-238G>C rs730881126
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001035.3(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr) rs397516510
NM_001035.3(RYR2):c.14173T>A (p.Tyr4725Asn) rs876661387
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) rs1564844428
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001148.6(ANK2):c.2460CAC[4] (p.Thr826del) rs770530257
NM_001184880.2(PCDH19):c.2728G>T (p.Glu910Ter) rs2147485081
NM_001232.4(CASQ2):c.1188TGA[2] (p.Asp398del) rs72554070
NM_001232.4(CASQ2):c.97C>T (p.Arg33Ter) rs397507556
NM_001267550.2(TTN):c.13525del (p.Ser4509fs) rs1553936898
NM_001267550.2(TTN):c.31846+1G>A rs794727043
NM_001267550.2(TTN):c.44281+1G>A rs771562210
NM_001267550.2(TTN):c.52307_52310dup (p.Glu17437delinsAspTer) rs794729323
NM_001267550.2(TTN):c.53259del (p.Lys17753fs) rs1389777522
NM_001267550.2(TTN):c.57331C>T (p.Arg19111Ter) rs72646831
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter) rs794729275
NM_001267550.2(TTN):c.62217T>A (p.Tyr20739Ter) rs727503586
NM_001267550.2(TTN):c.63601C>T (p.Arg21201Ter) rs764243269
NM_001267550.2(TTN):c.64688del (p.Pro21563fs) rs774395395
NM_001267550.2(TTN):c.75328C>T (p.Arg25110Ter) rs794729382
NM_001267550.2(TTN):c.75663del (p.Lys25221fs) rs1131691542
NM_001267550.2(TTN):c.76397_76398del (p.Ile25466fs) rs794729342
NM_001276345.2(TNNT2):c.310C>T (p.Arg104Cys) rs727503513
NM_001276345.2(TNNT2):c.311G>T (p.Arg104Leu) rs397516457
NM_001276345.2(TNNT2):c.321G>T (p.Lys107Asn) rs397516459
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.547C>T (p.Arg183Trp) rs727503512
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.644G>A (p.Arg215Gln) rs121964860
NM_001458.5(FLNC):c.6958G>A (p.Gly2320Arg) rs867808948
NM_001613.4(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_003280.3(TNNC1):c.161C>A (p.Pro54His) rs876661393
NM_004281.4(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004387.4(NKX2-5):c.334+1G>T rs876661380
NM_004387.4(NKX2-5):c.443del (p.Ala148fs) rs876661381
NM_004387.4(NKX2-5):c.627GCC[6] (p.Pro214dup) rs746833511
NM_004415.4(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.4(DSP):c.5460dup (p.Val1821fs) rs1554108609
NM_004415.4(DSP):c.7491_7492del (p.Cys2497_Glu2498delinsTer) rs754354190
NM_004415.4(DSP):c.8529_8540del (p.2827_2830SGSR[4]) rs794728151
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005751.5(AKAP9):c.10118C>G (p.Ser3373Cys) rs140470576
NM_007078.3(LDB3):c.1296CCCTGCCCCTGCCTACACCCCCTC[1] (p.434APAYTPSP[1]) rs397517209
NM_017636.4(TRPM4):c.2214G>A (p.Thr738=) rs1490908470
NM_018127.7(ELAC2):c.155C>G (p.Ser52Cys) rs9895963
NM_020433.5(JPH2):c.1464C>A (p.Ala488=) rs1060499997
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_032578.4(MYPN):c.3122T>A (p.Ile1041Asn) rs754227127
NM_032578.4(MYPN):c.3205C>A (p.Arg1069Ser) rs368448794
NM_133379.5(TTN):c.15285_15317dup (p.5058TLERYSTPPGE[6]) rs397517815
NM_144573.4(NEXN):c.1416AAG[1] (p.Arg475del) rs794729091
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1935C>G (p.Phe645Leu) rs794729086
NM_170707.4(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.4(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.4(LMNA):c.344A>T (p.Glu115Val) rs794728588
NM_170707.4(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.4(LMNA):c.513+2T>G rs1553264668
NM_170707.4(LMNA):c.640-10A>G rs80356807
NM_170707.4(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_174936.4(PCSK9):c.212C>T (p.Pro71Leu) rs569379713
NM_174936.4(PCSK9):c.45GCT[8] (p.Leu23dup) rs35574083

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