ClinVar Miner

List of variants reported as likely pathogenic for Hypertrophic cardiomyopathy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 286
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg) rs397515912 0.00006
NM_000256.3(MYBPC3):c.1789C>T (p.Arg597Trp) rs201596087 0.00005
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796 0.00005
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 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_000257.4(MYH7):c.2206A>G (p.Ile736Val) rs397516138 0.00004
NM_000257.4(MYH7):c.5459G>A (p.Arg1820Gln) rs371855540 0.00004
NM_000258.3(MYL3):c.466G>A (p.Val156Met) rs199474707 0.00004
NM_000256.3(MYBPC3):c.2249C>T (p.Thr750Met) rs727503189 0.00003
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His) rs727503191 0.00002
NM_000257.4(MYH7):c.1193G>A (p.Gly398Glu) rs730880158 0.00002
NM_000257.4(MYH7):c.2348G>A (p.Arg783His) rs397516142 0.00002
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097 0.00002
NM_000257.4(MYH7):c.4499G>A (p.Arg1500Gln) rs121913647 0.00002
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645 0.00002
NM_000257.4(MYH7):c.5537G>A (p.Arg1846His) rs757803046 0.00002
NM_000257.4(MYH7):c.5561C>T (p.Thr1854Met) rs372381770 0.00002
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151 0.00002
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531 0.00001
NM_000256.3(MYBPC3):c.1409G>A (p.Arg470Gln) rs776734314 0.00001
NM_000256.3(MYBPC3):c.1685C>T (p.Ala562Val) rs730880694 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.406+1G>A rs1223603416 0.00001
NM_000256.3(MYBPC3):c.926+1G>A rs767239679 0.00001
NM_000257.4(MYH7):c.2134C>T (p.Arg712Cys) rs749007293 0.00001
NM_000257.4(MYH7):c.2135G>T (p.Arg712Leu) rs1224554825 0.00001
NM_000257.4(MYH7):c.2168G>A (p.Arg723His) rs397516135 0.00001
NM_000257.4(MYH7):c.2378G>A (p.Arg793Gln) rs730880896 0.00001
NM_000257.4(MYH7):c.2456G>A (p.Arg819Gln) rs773009513 0.00001
NM_000257.4(MYH7):c.2556G>A (p.Met852Ile) rs1343088568 0.00001
NM_000257.4(MYH7):c.2908G>A (p.Ala970Thr) rs1446657813 0.00001
NM_000257.4(MYH7):c.3337G>A (p.Ala1113Thr) rs193922388 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000257.4(MYH7):c.4301G>A (p.Arg1434His) rs780625785 0.00001
NM_000257.4(MYH7):c.4424G>A (p.Arg1475His) rs1176998293 0.00001
NM_000257.4(MYH7):c.4649C>T (p.Ser1550Phe) rs730880912 0.00001
NM_000257.4(MYH7):c.4679G>A (p.Arg1560Gln) rs730880806 0.00001
NM_000257.4(MYH7):c.493A>G (p.Met165Val) rs730880839 0.00001
NM_000257.4(MYH7):c.5726G>A (p.Arg1909Gln) rs397516253 0.00001
NM_000257.4(MYH7):c.610C>T (p.Arg204Cys) rs397516259 0.00001
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln) rs727504273 0.00001
NM_000363.5(TNNI3):c.108+2T>G rs1057520417 0.00001
NM_000363.5(TNNI3):c.11+1G>T rs2085744080 0.00001
NM_000363.5(TNNI3):c.370G>C (p.Glu124Gln) rs727503506 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000363.5(TNNI3):c.610C>T (p.Arg204Cys) rs727504243 0.00001
NM_001018005.2(TPM1):c.548C>T (p.Ala183Val) rs397516376 0.00001
NM_001018005.2(TPM1):c.850A>G (p.Ile284Val) rs199476322 0.00001
NC_000011.9:g.(?_47358756)_47367811del
NC_000011.9:g.(?_47362467)_(47362574_?)del
NC_000011.9:g.(?_47362544)_(47368616_?)del
NC_000014.8:g.(?_23897769)_(23900071_?)del
NM_000256.3(MYBPC3):c.1091-2A>G rs2142862326
NM_000256.3(MYBPC3):c.1133_1226+6delinsA rs2142861940
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1227-1G>A
NM_000256.3(MYBPC3):c.1227-39_1263del
NM_000256.3(MYBPC3):c.1352-1G>A
NM_000256.3(MYBPC3):c.1352-2_1355del rs2095890510
NM_000256.3(MYBPC3):c.1449_1457+4del rs2142861325
NM_000256.3(MYBPC3):c.1457+5G>C rs727503202
NM_000256.3(MYBPC3):c.1457_1457+1delinsCT
NM_000256.3(MYBPC3):c.1510AAG[1] (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.1591G>A (p.Gly531Arg) rs397515912
NM_000256.3(MYBPC3):c.1684_1698delinsCCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTCCACCCGAGCCCCCCTCCCCACCCCAGGCTGCACCTGCCGCTCATCTGGATCTCCTGGCCATTCTTGAGCCATTTGACCTCAGCGTCATGGTCAGCCAGTTCCACGGTCAGCCGGATCTTGTGGCCTTTGCTCACCTGGTAGGCCGGCTCCAGCTTCTTCTGAAAGGCTGAGCACCACCCCTCAGCCCCGGCCACCCCACCGCCCGCACCCTGCTCCCCCAGGCCAAGCTACTGTGGCTGCTGGTCCTTTGCGCCCACCATCAGGTCTGCGATGCTCTGGTACACCTCCAGCTTCTTTTCTGCAGGGCAGGGCAGAGCCATTGAGCTCGGGAGGGTGTGTGGGTGTGGCGTGAATCCCTGTGGAGGGCGTGTGGGCCCATGGGCGCTGGTGCGCACGTGTCTGGGTGCATGTGGGCATGTGAAAACACGTGTGCCTGTGTGTGCCATGTTTGCCTGTGATGGTGCAGTGCACATAAGGAACCTCAAGTGTCTGAGGGGTGGTGATGCTCACCAGGCCCGTATGACCCTCTCAGTACCCTCTGGAGCGGTCACCTCAGCATCGTCATTTTAGAGATGAGAAGGATGAGGTTTAG (p.Ala562_Cys566delinsProCysSerProArgProSerTyrCysGlyCysSerThrArgAlaProLeuProThrProGlyCysThrCysArgSerSerGlySerProGlyHisSerTer) rs1565627566
NM_000256.3(MYBPC3):c.1791-2del
NM_000256.3(MYBPC3):c.2068-2A>G
NM_000256.3(MYBPC3):c.2148+1G>T rs1060499604
NM_000256.3(MYBPC3):c.2246A>G (p.Tyr749Cys) rs1464769206
NM_000256.3(MYBPC3):c.2285T>A (p.Val762Asp) rs1595844241
NM_000256.3(MYBPC3):c.2291_2308+3del
NM_000256.3(MYBPC3):c.2302_2308+22del
NM_000256.3(MYBPC3):c.2308G>C (p.Asp770His) rs36211723
NM_000256.3(MYBPC3):c.2374T>A (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2414-1G>A rs863224899
NM_000256.3(MYBPC3):c.2414-2A>G
NM_000256.3(MYBPC3):c.2449C>G (p.Arg817Gly) rs727503188
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.2543C>A (p.Ala848Glu) rs730880569
NM_000256.3(MYBPC3):c.2603-1G>A rs977277400
NM_000256.3(MYBPC3):c.2603-1G>C rs977277400
NM_000256.3(MYBPC3):c.2603-1G>T
NM_000256.3(MYBPC3):c.2603-2A>G rs1419155559
NM_000256.3(MYBPC3):c.2731_2737+19del rs2095881691
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.2906-1G>A rs1409755826
NM_000256.3(MYBPC3):c.2906-2A>G rs727504333
NM_000256.3(MYBPC3):c.292+1G>A rs1433492944
NM_000256.3(MYBPC3):c.292+1del rs2142869314
NM_000256.3(MYBPC3):c.293-174_307del
NM_000256.3(MYBPC3):c.293-1G>C
NM_000256.3(MYBPC3):c.2994+1del rs2095879886
NM_000256.3(MYBPC3):c.2995-58_3151delinsTACCAGGCC
NM_000256.3(MYBPC3):c.3182_3190+4del rs730880718
NM_000256.3(MYBPC3):c.3191-1G>A rs2095879167
NM_000256.3(MYBPC3):c.3191-1G>C rs2095879167
NM_000256.3(MYBPC3):c.3331-1G>A rs727504305
NM_000256.3(MYBPC3):c.3331-1G>C rs727504305
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.3413G>C (p.Arg1138Pro) rs187705120
NM_000256.3(MYBPC3):c.3491-3C>G rs730880592
NM_000256.3(MYBPC3):c.3593_3627+20del
NM_000256.3(MYBPC3):c.3627+2T>C rs1299079662
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3751T>C (p.Tyr1251His) rs730880601
NM_000256.3(MYBPC3):c.3764CCA[1] (p.Thr1256del) rs397516040
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.3815-2A>G
NM_000256.3(MYBPC3):c.407-1G>A rs185449721
NM_000256.3(MYBPC3):c.407-2A>G
NM_000256.3(MYBPC3):c.505+1G>A rs730880620
NM_000256.3(MYBPC3):c.505+1G>C
NM_000256.3(MYBPC3):c.505+1G>T
NM_000256.3(MYBPC3):c.505_505+7del rs1555123473
NM_000256.3(MYBPC3):c.506-13_585delinsATT
NM_000256.3(MYBPC3):c.654+1G>A rs730880621
NM_000256.3(MYBPC3):c.654+2T>C rs2142867623
NM_000256.3(MYBPC3):c.772+2T>C
NM_000256.3(MYBPC3):c.852-1G>T rs368121566
NM_000256.3(MYBPC3):c.852-2A>C
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.905+1G>A
NM_000256.3(MYBPC3):c.905+1G>T rs767698543
NM_000256.3(MYBPC3):c.926+1G>C rs767239679
NM_000256.3(MYBPC3):c.926+2T>C rs1595847941
NM_000256.3(MYBPC3):c.933_1090+396del
NM_000257.4(MYH7):c.1052A>C (p.Lys351Thr) rs1555338462
NM_000257.4(MYH7):c.1144G>T (p.Asp382Tyr) rs878853836
NM_000257.4(MYH7):c.1145A>G (p.Asp382Gly) rs1566535491
NM_000257.4(MYH7):c.1171A>T (p.Asn391Tyr)
NM_000257.4(MYH7):c.1182C>A (p.Asp394Glu) rs1060501452
NM_000257.4(MYH7):c.1192G>A (p.Gly398Arg)
NM_000257.4(MYH7):c.1220G>T (p.Gly407Val) rs397516095
NM_000257.4(MYH7):c.1273G>A (p.Gly425Arg) rs397516097
NM_000257.4(MYH7):c.1350G>C (p.Lys450Asn) rs1555338319
NM_000257.4(MYH7):c.1358G>T (p.Arg453Leu) rs397516101
NM_000257.4(MYH7):c.1478T>G (p.Met493Arg)
NM_000257.4(MYH7):c.1479G>A (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1499A>C (p.Glu500Ala) rs727504286
NM_000257.4(MYH7):c.1544T>C (p.Met515Thr) rs863224900
NM_000257.4(MYH7):c.1545G>A (p.Met515Ile)
NM_000257.4(MYH7):c.1615A>C (p.Met539Leu) rs730880930
NM_000257.4(MYH7):c.1615A>G (p.Met539Val) rs730880930
NM_000257.4(MYH7):c.1616T>C (p.Met539Thr)
NM_000257.4(MYH7):c.1751G>T (p.Gly584Val) rs1595085409
NM_000257.4(MYH7):c.1759G>C (p.Asp587His) rs727504294
NM_000257.4(MYH7):c.1806T>G (p.Asn602Lys) rs2138672051
NM_000257.4(MYH7):c.1826A>G (p.Tyr609Cys) rs727504925
NM_000257.4(MYH7):c.1909A>G (p.Lys637Glu) rs2138671179
NM_000257.4(MYH7):c.1922G>C (p.Gly641Ala) rs1555338080
NM_000257.4(MYH7):c.1952A>C (p.His651Pro) rs606231328
NM_000257.4(MYH7):c.1969A>C (p.Lys657Gln) rs727503264
NM_000257.4(MYH7):c.1971G>C (p.Lys657Asn) rs760736597
NM_000257.4(MYH7):c.1979C>A (p.Thr660Asn) rs1595084560
NM_000257.4(MYH7):c.1987C>A (p.Arg663Ser) rs397516127
NM_000257.4(MYH7):c.2012G>C (p.Arg671Pro) rs730880883
NM_000257.4(MYH7):c.2051T>C (p.Met684Thr) rs606231332
NM_000257.4(MYH7):c.2086A>T (p.Asn696Tyr) rs2138668970
NM_000257.4(MYH7):c.2123G>C (p.Gly708Ala) rs397516134
NM_000257.4(MYH7):c.2128C>G (p.Pro710Ala) rs2138668839
NM_000257.4(MYH7):c.2128C>T (p.Pro710Ser)
NM_000257.4(MYH7):c.2134C>A (p.Arg712Ser) rs749007293
NM_000257.4(MYH7):c.2134C>G (p.Arg712Gly) rs749007293
NM_000257.4(MYH7):c.2146G>T (p.Gly716Trp) rs121913638
NM_000257.4(MYH7):c.2147G>A (p.Gly716Glu) rs1555337912
NM_000257.4(MYH7):c.2149G>A (p.Asp717Asn) rs1057524857
NM_000257.4(MYH7):c.2150A>T (p.Asp717Val)
NM_000257.4(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.4(MYH7):c.2189T>A (p.Ile730Asn) rs1060501448
NM_000257.4(MYH7):c.2189T>C (p.Ile730Thr) rs1060501448
NM_000257.4(MYH7):c.2191C>A (p.Pro731Thr) rs727504299
NM_000257.4(MYH7):c.2192C>T (p.Pro731Leu) rs1247313340
NM_000257.4(MYH7):c.2198G>T (p.Gly733Val) rs727504241
NM_000257.4(MYH7):c.2200C>G (p.Gln734Glu) rs1173617248
NM_000257.4(MYH7):c.2201A>T (p.Gln734Leu)
NM_000257.4(MYH7):c.2288T>G (p.Val763Gly) rs730880735
NM_000257.4(MYH7):c.2323G>A (p.Glu775Lys) rs2138667243
NM_000257.4(MYH7):c.2335G>A (p.Glu779Lys) rs1427104281
NM_000257.4(MYH7):c.2347C>T (p.Arg783Cys) rs727503258
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2389G>C (p.Ala797Pro) rs3218716
NM_000257.4(MYH7):c.2446T>C (p.Trp816Arg) rs1555337763
NM_000257.4(MYH7):c.2448G>C (p.Trp816Cys)
NM_000257.4(MYH7):c.2455C>T (p.Arg819Trp) rs1064793206
NM_000257.4(MYH7):c.2465T>C (p.Met822Thr) rs1373092362
NM_000257.4(MYH7):c.2466G>A (p.Met822Ile) rs2138666198
NM_000257.4(MYH7):c.2504A>C (p.Lys835Thr) rs876657880
NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly) rs863225103
NM_000257.4(MYH7):c.2525G>A (p.Ser842Asn) rs397516154
NM_000257.4(MYH7):c.2525G>C (p.Ser842Thr) rs397516154
NM_000257.4(MYH7):c.2540A>C (p.Lys847Thr)
NM_000257.4(MYH7):c.2543A>G (p.Glu848Gly) rs727504311
NM_000257.4(MYH7):c.2544G>C (p.Glu848Asp) rs730880899
NM_000257.4(MYH7):c.2546T>C (p.Met849Thr) rs397516156
NM_000257.4(MYH7):c.2555T>A (p.Met852Lys) rs397516157
NM_000257.4(MYH7):c.2555T>G (p.Met852Arg) rs397516157
NM_000257.4(MYH7):c.2572C>G (p.Arg858Gly) rs2754158
NM_000257.4(MYH7):c.2573G>C (p.Arg858Pro) rs2856897
NM_000257.4(MYH7):c.2602G>A (p.Ala868Thr)
NM_000257.4(MYH7):c.2606G>C (p.Arg869Pro)
NM_000257.4(MYH7):c.2609G>C (p.Arg870Pro) rs36211715
NM_000257.4(MYH7):c.2609G>T (p.Arg870Leu) rs36211715
NM_000257.4(MYH7):c.2630T>A (p.Met877Lys) rs1282663873
NM_000257.4(MYH7):c.2631G>A (p.Met877Ile) rs1060505018
NM_000257.4(MYH7):c.2633T>C (p.Val878Ala) rs1060501436
NM_000257.4(MYH7):c.2678C>T (p.Ala893Val) rs727503254
NM_000257.4(MYH7):c.2710C>A (p.Arg904Ser)
NM_000257.4(MYH7):c.2714G>A (p.Cys905Tyr) rs730880757
NM_000257.4(MYH7):c.2714G>C (p.Cys905Ser) rs730880757
NM_000257.4(MYH7):c.2714G>T (p.Cys905Phe) rs730880757
NM_000257.4(MYH7):c.2722C>A (p.Leu908Met)
NM_000257.4(MYH7):c.2761G>A (p.Glu921Lys) rs730880759
NM_000257.4(MYH7):c.2762A>C (p.Glu921Ala) rs779467831
NM_000257.4(MYH7):c.2773A>G (p.Arg925Gly) rs1892592854
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.2792A>G (p.Glu931Gly) rs730880760
NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys) rs121913639
NM_000257.4(MYH7):c.2857G>C (p.Asp953His) rs1391622163
NM_000257.4(MYH7):c.3113T>C (p.Leu1038Pro)
NM_000257.4(MYH7):c.3157C>T (p.Arg1053Trp) rs730880903
NM_000257.4(MYH7):c.3347AGGAGCTGGAGG[3] (p.1116EELE[3]) rs1064792935
NM_000257.4(MYH7):c.353C>T (p.Ser118Leu)
NM_000257.4(MYH7):c.3908G>A (p.Arg1303Gln) rs727505325
NM_000257.4(MYH7):c.4075C>A (p.Arg1359Ser) rs45451303
NM_000257.4(MYH7):c.4123T>C (p.Tyr1375His) rs730880790
NM_000257.4(MYH7):c.4135G>T (p.Ala1379Ser) rs397516202
NM_000257.4(MYH7):c.415G>T (p.Val139Leu) rs2138684666
NM_000257.4(MYH7):c.427C>G (p.Arg143Gly)
NM_000257.4(MYH7):c.428G>C (p.Arg143Pro) rs397516209
NM_000257.4(MYH7):c.428G>T (p.Arg143Leu) rs397516209
NM_000257.4(MYH7):c.4300C>G (p.Arg1434Gly) rs730880800
NM_000257.4(MYH7):c.4301G>C (p.Arg1434Pro) rs780625785
NM_000257.4(MYH7):c.4486G>A (p.Glu1496Lys)
NM_000257.4(MYH7):c.4520-2del rs2138644623
NM_000257.4(MYH7):c.4648T>C (p.Ser1550Pro) rs1555336492
NM_000257.4(MYH7):c.4678C>T (p.Arg1560Trp) rs368722536
NM_000257.4(MYH7):c.4741GAG[1] (p.Glu1582del) rs1555336467
NM_000257.4(MYH7):c.4793A>C (p.Gln1598Pro) rs2138642157
NM_000257.4(MYH7):c.4807G>C (p.Ala1603Pro) rs730880809
NM_000257.4(MYH7):c.4835T>C (p.Leu1612Pro) rs587779392
NM_000257.4(MYH7):c.494T>A (p.Met165Lys) rs730880920
NM_000257.4(MYH7):c.495G>A (p.Met165Ile) rs1555338758
NM_000257.4(MYH7):c.495G>C (p.Met165Ile) rs1555338758
NM_000257.4(MYH7):c.5255A>G (p.Glu1752Gly) rs730880813
NM_000257.4(MYH7):c.5279C>A (p.Thr1760Lys) rs727505294
NM_000257.4(MYH7):c.5324C>T (p.Thr1775Ile) rs2138638712
NM_000257.4(MYH7):c.5342G>T (p.Arg1781Leu) rs397516246
NM_000257.4(MYH7):c.5414T>C (p.Leu1805Pro) rs2138638382
NM_000257.4(MYH7):c.5458C>T (p.Arg1820Trp) rs145734640
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5636A>G (p.Lys1879Arg)
NM_000257.4(MYH7):c.5655+1G>T rs1892079951
NM_000257.4(MYH7):c.5655+5G>C rs1595070689
NM_000257.4(MYH7):c.5742G>T (p.Glu1914Asp) rs2138635168
NM_000257.4(MYH7):c.5773C>T (p.Arg1925Cys) rs755706526
NM_000257.4(MYH7):c.644C>T (p.Thr215Ile) rs1892948780
NM_000257.4(MYH7):c.655C>G (p.Gln219Glu) rs1892947729
NM_000257.4(MYH7):c.710G>A (p.Arg237Gln) rs397516263
NM_000257.4(MYH7):c.741C>A (p.Phe247Leu) rs1566537070
NM_000257.4(MYH7):c.745C>G (p.Arg249Gly) rs730880852
NM_000257.4(MYH7):c.755T>C (p.Phe252Ser) rs727505202
NM_000257.4(MYH7):c.844G>T (p.Asp282Tyr) rs397516271
NM_000257.4(MYH7):c.902T>G (p.Leu301Arg)
NM_000257.4(MYH7):c.950A>G (p.Glu317Gly)
NM_000363.5(TNNI3):c.108+1G>A
NM_000363.5(TNNI3):c.12-1G>A rs397516340
NM_000363.5(TNNI3):c.404T>C (p.Leu135Pro) rs1568858210
NM_000363.5(TNNI3):c.409G>A (p.Gly137Ser)
NM_000363.5(TNNI3):c.524A>C (p.Gln175Pro)
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val) rs397516359
NM_001018005.2(TPM1):c.161A>C (p.Glu54Ala)
NM_001018005.2(TPM1):c.250G>A (p.Asp84Asn) rs754664923
NM_001018005.2(TPM1):c.275T>C (p.Ile92Thr) rs199476310
NM_001018005.2(TPM1):c.292G>A (p.Glu98Lys) rs730881131
NM_001018005.2(TPM1):c.40G>T (p.Asp14Tyr) rs876661210
NM_001018005.2(TPM1):c.433G>A (p.Glu145Lys)
NM_001018005.2(TPM1):c.45G>T (p.Lys15Asn) rs199476301
NM_001018005.2(TPM1):c.52G>A (p.Ala18Thr)
NM_001018005.2(TPM1):c.538G>A (p.Glu180Lys) rs1555409132
NM_001018005.2(TPM1):c.539A>T (p.Glu180Val) rs104894502
NM_001018005.2(TPM1):c.541G>C (p.Glu181Gln)
NM_001018005.2(TPM1):c.616T>G (p.Ser206Ala) rs2035667597
NM_001018005.2(TPM1):c.710C>G (p.Thr237Ser) rs2140974070

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