ClinVar Miner

Variants with conflicting interpretations studied for Hypertrophic cardiomyopathy

Coded as:
Minimum review status of the submission for Hypertrophic cardiomyopathy: Collection method of the submission for Hypertrophic 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
9308 1137 0 150 66 0 93 303

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
Hypertrophic cardiomyopathy pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 108 23 0 0
likely pathogenic 107 0 74 1 1
uncertain significance 23 74 0 60 6
likely benign 0 1 60 0 42
benign 0 1 6 42 0

Condition to condition summary #

Total conditions: 2
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
Hypertrophic cardiomyopathy 9312 1134 0 149 66 0 93 302
Hypertrophic cardiomyopathy; Dyspnea 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 303
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_002294.3(LAMP2):c.156A>T (p.Val52=) rs12097 0.39324
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000363.5(TNNI3):c.150+13G>A rs73617692 0.07353
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_000363.5(TNNI3):c.204G>T (p.Arg68=) rs3729711 0.04033
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_003803.4(MYOM1):c.1900+3A>C rs77613865 0.00536
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
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_000256.3(MYBPC3):c.2914C>T (p.Arg972Trp) rs193922382 0.00096
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00077
NM_000257.4(MYH7):c.3156G>A (p.Lys1052=) rs138294643 0.00063
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00046
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000256.3(MYBPC3):c.1863C>T (p.Phe621=) rs193922378 0.00032
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064 0.00029
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000256.3(MYBPC3):c.1602G>A (p.Ala534=) rs370945942 0.00028
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp) rs371754365 0.00016
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748 0.00009
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000256.3(MYBPC3):c.93C>T (p.Ala31=) rs397516085 0.00008
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000256.3(MYBPC3):c.94G>A (p.Glu32Lys) rs730880575 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.1790G>A (p.Arg597Gln) rs727503195 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.1056C>G (p.Leu352=) rs375007425 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000256.3(MYBPC3):c.2808G>A (p.Thr936=) rs370530334 0.00004
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000 0.00004
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00004
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met) rs121909378 0.00004
NM_000256.3(MYBPC3):c.557C>T (p.Pro186Leu) rs727503216 0.00004
NM_000256.3(MYBPC3):c.639C>T (p.Tyr213=) rs727504858 0.00004
NM_000256.3(MYBPC3):c.842G>A (p.Arg281Gln) rs11570060 0.00004
NM_000257.4(MYH7):c.1332T>C (p.Asn444=) rs397516099 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.4158C>T (p.Leu1386=) rs886050418 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000363.5(TNNI3):c.292C>T (p.Arg98Ter) rs730881068 0.00004
NM_000363.5(TNNI3):c.372+7C>T rs367809676 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp) rs368861241 0.00004
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_000256.3(MYBPC3):c.1828G>C (p.Asp610His) rs371564200 0.00003
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.3191-7C>T rs373012629 0.00003
NM_000256.3(MYBPC3):c.3198A>G (p.Pro1066=) rs756786807 0.00003
NM_000256.3(MYBPC3):c.927-10C>T rs201078659 0.00003
NM_000257.4(MYH7):c.2081G>A (p.Arg694His) rs886039030 0.00003
NM_000257.4(MYH7):c.2221G>A (p.Gly741Arg) rs121913632 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 0.00003
NM_000257.4(MYH7):c.3100-2A>C rs759013925 0.00003
NM_000257.4(MYH7):c.3133C>T (p.Arg1045Cys) rs45611033 0.00003
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000363.5(TNNI3):c.45A>C (p.Ala15=) rs377421427 0.00003
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) rs190228518 0.00002
NM_000256.3(MYBPC3):c.1812C>T (p.Asp604=) rs397515929 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361 0.00002
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 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.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.1727A>G (p.His576Arg) rs727504238 0.00002
NM_000257.4(MYH7):c.2420G>A (p.Arg807His) rs141414377 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His) rs397516246 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000258.3(MYL3):c.532G>A (p.Asp178Asn) rs145520567 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000256.3(MYBPC3):c.1227-9C>A rs11570079 0.00001
NM_000256.3(MYBPC3):c.1287G>A (p.Ala429=) rs778718628 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 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.1899G>A (p.Glu633=) rs1206508060 0.00001
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=) rs397515957 0.00001
NM_000256.3(MYBPC3):c.2309-4C>T rs942669152 0.00001
NM_000256.3(MYBPC3):c.2450G>A (p.Arg817Gln) rs397515964 0.00001
NM_000256.3(MYBPC3):c.2573G>A (p.Ser858Asn) rs727503185 0.00001
NM_000256.3(MYBPC3):c.2737+5G>A rs398123280 0.00001
NM_000256.3(MYBPC3):c.2800C>T (p.Leu934=) rs367980215 0.00001
NM_000256.3(MYBPC3):c.2995-5C>G rs376083315 0.00001
NM_000256.3(MYBPC3):c.3058A>G (p.Ser1020Gly) rs2095879641 0.00001
NM_000256.3(MYBPC3):c.3148G>A (p.Glu1050Lys) rs780449220 0.00001
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949 0.00001
NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=) rs779312310 0.00001
NM_000256.3(MYBPC3):c.655G>T (p.Val219Phe) rs397516068 0.00001
NM_000256.3(MYBPC3):c.822-5C>G rs764381544 0.00001
NM_000257.4(MYH7):c.1231G>A (p.Val411Ile) rs730880868 0.00001
NM_000257.4(MYH7):c.1301G>A (p.Arg434Lys) rs786205356 0.00001
NM_000257.4(MYH7):c.1315A>T (p.Met439Leu) rs370310929 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr) rs397516103 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp) rs267606911 0.00001
NM_000257.4(MYH7):c.160C>T (p.Arg54Ter) rs761841748 0.00001
NM_000257.4(MYH7):c.1750G>A (p.Gly584Ser) rs121913626 0.00001
NM_000257.4(MYH7):c.2063del (p.Leu688fs) rs888930078 0.00001
NM_000257.4(MYH7):c.2080C>T (p.Arg694Cys) rs727504240 0.00001
NM_000257.4(MYH7):c.2134C>T (p.Arg712Cys) rs749007293 0.00001
NM_000257.4(MYH7):c.2333A>T (p.Asp778Val) rs121913634 0.00001
NM_000257.4(MYH7):c.2536G>C (p.Glu846Gln) rs730880748 0.00001
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157 0.00001
NM_000257.4(MYH7):c.2573G>A (p.Arg858His) rs2856897 0.00001
NM_000257.4(MYH7):c.2644C>G (p.Gln882Glu) rs397516160 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.709C>T (p.Arg237Trp) rs45516091 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.728G>A (p.Arg243His) rs267606910 0.00001
NM_000258.3(MYL3):c.281G>A (p.Arg94His) rs199474703 0.00001
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys) rs104893750 0.00001
NM_000258.3(MYL3):c.560-15T>G rs1041055773 0.00001
NM_000363.5(TNNI3):c.11+1G>T rs2085744080 0.00001
NM_000363.5(TNNI3):c.146dup (p.Lys50fs) rs1162696593 0.00001
NM_000363.5(TNNI3):c.340A>G (p.Ile114Val) rs730881070 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 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.55A>G (p.Ile19Val) rs755862334 0.00001
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn) rs104894727 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001018005.2(TPM1):c.703-3C>T rs796682308 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1091-7T>C rs2142862333
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-5C>A
NM_000256.3(MYBPC3):c.1335G>C (p.Thr445=) rs727503205
NM_000256.3(MYBPC3):c.1440_1441delinsC (p.Glu480fs) rs1595846344
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.1828G>A (p.Asp610Asn) rs371564200
NM_000256.3(MYBPC3):c.194C>T (p.Thr65Met) rs753300898
NM_000256.3(MYBPC3):c.2149-3del
NM_000256.3(MYBPC3):c.2149-9C>T rs773882783
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro) rs397515964
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2634A>G (p.Val878=)
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2904G>C (p.Leu968=) rs747974933
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.3009_3010del (p.Gln1004fs) rs2095879705
NM_000256.3(MYBPC3):c.3297G>T (p.Gly1099=) rs371301665
NM_000256.3(MYBPC3):c.3303A>G (p.Thr1101=)
NM_000256.3(MYBPC3):c.3330+5G>T rs373746463
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) rs1565622703
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3628-18_3628-14del
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.3663G>A (p.Leu1221=)
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267
NM_000256.3(MYBPC3):c.506-12del rs11570050
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.833del (p.Gly278fs) rs727503212
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=) rs371711564
NM_000256.3(MYBPC3):c.851+5C>T
NM_000256.3(MYBPC3):c.852-10C>G rs750425291
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.906-20CTG[5] rs751038432
NM_000256.3(MYBPC3):c.906-36G>A rs864622197
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
NM_000256.3(MYBPC3):c.927-1G>C rs2095894178
NM_000256.3(MYBPC3):c.933G>C (p.Ser311=) rs374326087
NM_000257.4(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1142C>A (p.Ala381Asp) rs1265368591
NM_000257.4(MYH7):c.1283C>T (p.Ala428Val) rs727503266
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1757T>C (p.Val586Ala) rs397516121
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.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2069T>C (p.Met690Thr) rs397516128
NM_000257.4(MYH7):c.2087A>G (p.Asn696Ser) rs730880732
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter)
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2198G>A (p.Gly733Glu) rs727504241
NM_000257.4(MYH7):c.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2287G>A (p.Val763Met) rs727504253
NM_000257.4(MYH7):c.2471T>C (p.Val824Ala) rs727503255
NM_000257.4(MYH7):c.2539A>G (p.Lys847Glu) rs727504310
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
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.2605C>T (p.Arg869Cys) rs730880750
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.2779G>A (p.Glu927Lys) rs397516170
NM_000257.4(MYH7):c.2782G>A (p.Asp928Asn) rs727503252
NM_000257.4(MYH7):c.2785GAG[2] (p.Glu931del) rs397516172
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys) rs121913629
NM_000257.4(MYH7):c.3134G>T (p.Arg1045Leu) rs397516178
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000257.4(MYH7):c.3346G>A (p.Glu1116Lys) rs727504274
NM_000257.4(MYH7):c.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
NM_000257.4(MYH7):c.4259G>A (p.Arg1420Gln) rs397516207
NM_000257.4(MYH7):c.4354-7C>T rs370093487
NM_000257.4(MYH7):c.438G>T (p.Lys146Asn) rs397516212
NM_000257.4(MYH7):c.506G>A (p.Arg169Lys) rs397516237
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp) rs121913650
NM_000257.4(MYH7):c.5302G>A (p.Glu1768Lys) rs397516241
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=) rs138682220
NM_000257.4(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
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.36T>G (p.Asp12Glu) rs138567316
NM_000258.3(MYL3):c.411G>A (p.Leu137=) rs2233265
NM_000258.3(MYL3):c.463C>G (p.His155Asp) rs199474706
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.157C>T (p.Leu53=) rs763981651
NM_000363.5(TNNI3):c.25-7A>C rs1171407156
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.407G>A (p.Arg136Gln) rs730881069
NM_000363.5(TNNI3):c.485G>C (p.Arg162Pro) rs397516354
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_000363.5(TNNI3):c.602T>C (p.Met201Thr) rs727504365
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000432.4(MYL2):c.53T>C (p.Phe18Ser) rs730880944
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001018005.2(TPM1):c.389T>C (p.Ile130Thr) rs727503517
NM_001018005.2(TPM1):c.457C>G (p.His153Asp) rs397516372
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.602C>T (p.Thr201Met) rs730881141
NM_001018005.2(TPM1):c.609C>G (p.Asn203Lys) rs397516486
NM_001018005.2(TPM1):c.639+13del rs397516488
NM_001018005.2(TPM1):c.655G>A (p.Asp219Asn) rs727503518
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_016203.4(PRKAG2):c.1592G>T (p.Arg531Leu) rs121908991
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
Single allele

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