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:

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
11104 1398 0 164 73 0 115 339

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 0 125 38 0 1
likely pathogenic 124 0 85 2 1
uncertain significance 38 85 0 65 9
likely benign 0 2 65 0 39
benign 1 1 8 39 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
Hypertrophic cardiomyopathy 11108 1396 0 163 72 0 115 337
Cardiomyopathy; Hypertrophic cardiomyopathy 0 1 0 0 1 0 0 1
Hypertrophic cardiomyopathy; Dyspnea 0 0 0 1 0 0 0 1
Hypertrophic cardiomyopathy; Sudden unexplained death 0 0 0 0 1 0 0 1

All variants with conflicting interpretations #

Total variants: 339
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.04876
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02329
NM_000258.3(MYL3):c.69C>T (p.Pro23=) rs2233264 0.02058
NM_020433.5(JPH2):c.661T>C (p.Phe221Leu) rs558770240 0.00596
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00577
NM_003803.4(MYOM1):c.1900+3A>C rs77613865 0.00536
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00315
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435 0.00166
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00111
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
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_003476.5(CSRP3):c.299G>A (p.Arg100His) rs138218523 0.00091
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00074
NM_000258.3(MYL3):c.559+6C>T rs199474709 0.00073
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00042
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491 0.00040
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00034
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361 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 0.00025
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_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00019
NM_003803.4(MYOM1):c.1204C>T (p.Arg402Trp) rs371754365 0.00016
NM_000257.4(MYH7):c.327C>T (p.Tyr109=) rs36211408 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
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_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.2360G>A (p.Arg787His) rs376754645 0.00008
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000256.3(MYBPC3):c.3137C>T (p.Thr1046Met) rs371061770 0.00007
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met) rs121913653 0.00007
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 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.1224-80G>A rs1025692267 0.00005
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_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00005
NM_000256.3(MYBPC3):c.1347G>T (p.Val449=) rs539453748 0.00004
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 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.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.772G>A (p.Glu258Lys) rs397516074 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.1988G>A (p.Arg663His) rs371898076 0.00004
NM_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000258.3(MYL3):c.460C>T (p.Arg154Cys) rs143852164 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_000256.3(MYBPC3):c.1021G>A (p.Gly341Ser) rs397515881 0.00003
NM_000256.3(MYBPC3):c.1302C>T (p.Tyr434=) rs190228518 0.00003
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 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.2311G>A (p.Val771Met) rs371488302 0.00003
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln) rs2856655 0.00003
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu) rs730880610 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 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.611G>A (p.Arg204His) rs397516260 0.00003
NM_000363.5(TNNI3):c.45A>C (p.Ala15=) rs377421427 0.00003
NM_001018005.2(TPM1):c.773-3T>C rs113759732 0.00003
NM_001018005.2(TPM1):c.845C>G (p.Thr282Ser) rs397516395 0.00003
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 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.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.3064C>T (p.Arg1022Cys) rs397515999 0.00002
NM_000256.3(MYBPC3):c.503T>C (p.Val168Ala) rs727505267 0.00002
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys) rs397516063 0.00002
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068 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.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.29G>C (p.Gly10Ala) rs730880826 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
NC_000011.10:g.47335872C>T rs398123280 0.00001
NC_000011.10:g.47342749C>T rs746542705 0.00001
NC_000011.10:g.47347040G>A rs1296550753 0.00001
NC_000011.10:g.47347683G>A rs730880628 0.00001
NC_000011.10:g.47347685G>C rs764381544 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.1227-5C>A rs772689571 0.00001
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.2258dup (p.Lys754fs) rs774521272 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.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.3663G>A (p.Leu1221=) rs1347906047 0.00001
NM_000256.3(MYBPC3):c.3780C>T (p.Gly1260=) rs779312310 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.3815-10T>G rs397516043 0.00001
NM_000256.3(MYBPC3):c.852-10C>G rs750425291 0.00001
NM_000257.4(MYH7):c.1142C>A (p.Ala381Asp) rs1265368591 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.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.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.2605C>T (p.Arg869Cys) rs730880750 0.00001
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878 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.4066G>A (p.Glu1356Lys) rs727503246 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.4259G>A (p.Arg1420Gln) rs397516207 0.00001
NM_000257.4(MYH7):c.427C>T (p.Arg143Trp) rs727503278 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_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.434G>A (p.Arg145Gln) rs397516349 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.493G>T (p.Glu165Ter) rs1057521530 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_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359 0.00001
NM_001018005.2(TPM1):c.115-5C>G rs753196985 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 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_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NC_000011.10:g.47336009del rs397515979
NC_000011.10:g.47347065C>T rs864622197
NC_000011.10:g.47347670del rs727503212
NM_000256.3(MYBPC3):c.1008C>T (p.Ile336=) rs397515880
NM_000256.3(MYBPC3):c.1091-7T>C rs2142862333
NM_000256.3(MYBPC3):c.1223+1G>A rs730880639
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1242C>T (p.Ser414=) rs2095890782
NM_000256.3(MYBPC3):c.1310del (p.Val437fs) rs397515896
NM_000256.3(MYBPC3):c.1335G>C (p.Thr445=) rs727503205
NM_000256.3(MYBPC3):c.1351+2T>C rs397515897
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.1641G>A (p.Val547=) rs397515915
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 rs748128261
NM_000256.3(MYBPC3):c.2149-9C>A rs773882783
NM_000256.3(MYBPC3):c.2149-9C>T rs773882783
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2450G>C (p.Arg817Pro) rs397515964
NM_000256.3(MYBPC3):c.2634A>G (p.Val878=) rs2495746695
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2738-7C>A rs1224814897
NM_000256.3(MYBPC3):c.2905+5G>T rs193922381
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.2995-7C>G rs2142851681
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=) rs748263197
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.3605del (p.Cys1202fs)
NM_000256.3(MYBPC3):c.3627+2del rs1555120258
NM_000256.3(MYBPC3):c.3628-18_3628-14del rs2495736746
NM_000256.3(MYBPC3):c.362C>T (p.Pro121Leu) rs551888783
NM_000256.3(MYBPC3):c.3735del (p.Phe1246fs) rs397516038
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3825A>G (p.Ter1275Trp) rs727504380
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.841C>A (p.Arg281=) rs371711564
NM_000256.3(MYBPC3):c.851+5C>T rs768364752
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.879G>A (p.Leu293=) rs2095895403
NM_000256.3(MYBPC3):c.906-20CTG[5] rs751038432
NM_000256.3(MYBPC3):c.927-10C>A rs201078659
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.1013T>C (p.Val338Ala) rs397516087
NM_000257.4(MYH7):c.1051A>G (p.Lys351Glu) rs730880864
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
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.1888+1G>A rs113186231
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.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2129C>A (p.Pro710His) rs727504272
NM_000257.4(MYH7):c.2145C>A (p.Tyr715Ter) rs146675572
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.2527G>A (p.Ala843Thr) rs727505132
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.2649GAA[1] (p.Lys884del) rs193922387
NM_000257.4(MYH7):c.2699A>T (p.Asp900Val) rs397516163
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.2804A>T (p.Glu935Val) rs730880761
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.3613G>A (p.Glu1205Lys) rs727505026
NM_000257.4(MYH7):c.4124A>G (p.Tyr1375Cys) rs727503245
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.5324C>T (p.Thr1775Ile) rs2138638712
NM_000257.4(MYH7):c.532G>A (p.Gly178Arg) rs730880156
NM_000257.4(MYH7):c.5380C>A (p.Gln1794Lys) rs397516247
NM_000257.4(MYH7):c.5451G>A (p.Ala1817=) rs138682220
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
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.728G>A (p.Arg243His) rs267606910
NM_000257.4(MYH7):c.743T>C (p.Ile248Thr) rs727504280
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_000363.5(TNNI3):c.150+1G>C rs2085732359
NM_000363.5(TNNI3):c.150G>A (p.Lys50=) rs730881086
NM_000363.5(TNNI3):c.1A>G (p.Met1Val) rs397516341
NM_000363.5(TNNI3):c.25-7A>C rs1171407156
NM_000363.5(TNNI3):c.258del (p.Leu88fs) rs727503507
NM_000363.5(TNNI3):c.282+2T>A rs2085728001
NM_000363.5(TNNI3):c.332_333del (p.Arg111fs) rs1555863715
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.574C>T (p.Arg192Cys) rs727503499
NM_000363.5(TNNI3):c.577A>G (p.Lys193Glu) rs730881080
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.484G>A (p.Gly162Arg) rs199474814
NM_000432.4(MYL2):c.485G>A (p.Gly162Glu) rs397516406
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.725C>T (p.Ala242Val) rs397516387
NM_001018005.2(TPM1):c.852A>T (p.Ile284=) rs759481997
NM_001276345.2(TNNT2):c.311G>A (p.Arg104His) rs397516457
NM_001276345.2(TNNT2):c.851+1G>A rs111377893
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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