ClinVar Miner

List of variants reported for Primary familial hypertrophic cardiomyopathy by Blueprint Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 341
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HGVS dbSNP gnomAD frequency
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val) rs140523053 0.00128
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_001267550.2(TTN):c.104774A>C (p.Glu34925Ala) rs201218828 0.00113
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_003803.4(MYOM1):c.1978C>G (p.Pro660Ala) rs201104206 0.00100
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001267550.2(TTN):c.2775+4G>A rs548681281 0.00086
NM_001270447.2(ACADVL):c.52A>G (p.Ile18Val) rs730880036 0.00071
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_003803.4(MYOM1):c.4376T>A (p.Ile1459Lys) rs730880167 0.00061
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_004517.4(ILK):c.157T>A (p.Leu53Met) rs200336608 0.00049
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_032578.4(MYPN):c.3124C>T (p.Arg1042Cys) rs151282801 0.00034
NM_001267550.2(TTN):c.57770G>A (p.Arg19257Gln) rs202076328 0.00033
NM_001035.3(RYR2):c.9923A>G (p.Asn3308Ser) rs201081663 0.00030
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) rs180931319 0.00028
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys) rs146245480 0.00025
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg) rs200625851 0.00024
NM_007078.3(LDB3):c.532C>G (p.Arg178Gly) rs730880128 0.00019
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys) rs193922377 0.00016
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) rs730880182 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_013266.4(CTNNA3):c.457G>C (p.Ala153Pro) rs147116577 0.00015
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003 0.00014
NM_001105206.3(LAMA4):c.3043G>C (p.Val1015Leu) rs730880122 0.00013
NM_002471.4(MYH6):c.3893C>T (p.Ala1298Val) rs368588052 0.00012
NM_016203.4(PRKAG2):c.1267C>A (p.Gln423Lys) rs147349145 0.00012
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_000257.4(MYH7):c.5786C>T (p.Thr1929Met) rs730880918 0.00010
NM_001267550.2(TTN):c.46222G>A (p.Ala15408Thr) rs730880239 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr) rs200939753 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_004281.4(BAG3):c.554C>T (p.Ser185Leu) rs730880054 0.00009
NM_004517.4(ILK):c.962A>G (p.Asn321Ser) rs570806647 0.00009
NM_170707.4(LMNA):c.976T>A (p.Ser326Thr) rs56851164 0.00009
NM_213569.2(NEBL):c.305C>T (p.Thr102Met) rs377492976 0.00009
NM_000257.4(MYH7):c.3158G>A (p.Arg1053Gln) rs587782962 0.00008
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His) rs781825990 0.00008
NM_002471.4(MYH6):c.2591C>T (p.Thr864Met) rs200153625 0.00008
NM_006393.3(NEBL):c.1255G>T (p.Glu419Ter) rs201103536 0.00008
NM_170707.4(LMNA):c.1381-5G>A rs730880133 0.00008
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_004006.3(DMD):c.3892G>A (p.Gly1298Arg) rs750349613 0.00007
NM_014391.3(ANKRD1):c.820T>C (p.Tyr274His) rs377074932 0.00007
NM_032578.4(MYPN):c.2642A>T (p.Asn881Ile) rs71584493 0.00007
NM_000256.3(MYBPC3):c.1255C>T (p.Arg419Cys) rs368770848 0.00006
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser) rs760958673 0.00006
NM_003803.4(MYOM1):c.4148T>C (p.Ile1383Thr) rs374491316 0.00006
NM_006440.5(TXNRD2):c.174C>T (p.Ala58=) rs767236339 0.00006
NM_014000.3(VCL):c.2468G>A (p.Arg823Gln) rs759202535 0.00006
NM_032588.4(TRIM63):c.224G>A (p.Cys75Tyr) rs200811483 0.00006
NM_133379.5(TTN):c.13939del (p.Glu4647fs) rs781363456 0.00006
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr) rs200303340 0.00005
NM_001103.4(ACTN2):c.278G>A (p.Arg93Gln) rs777124854 0.00005
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226 0.00004
NM_000256.3(MYBPC3):c.2381C>T (p.Pro794Leu) rs730880565 0.00004
NM_000256.3(MYBPC3):c.3005G>A (p.Arg1002Gln) rs727504235 0.00004
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142 0.00004
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_001035.3(RYR2):c.4692G>A (p.Met1564Ile) rs201675951 0.00004
NM_001103.4(ACTN2):c.1070G>A (p.Arg357His) rs730880041 0.00004
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg) rs782291756 0.00004
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002294.3(LAMP2):c.1137A>G (p.Ile379Met) rs730880126 0.00004
NM_004415.4(DSP):c.598-4G>A rs747448946 0.00004
NM_007078.3(LDB3):c.1403A>G (p.Asn468Ser) rs730880129 0.00004
NM_013266.4(CTNNA3):c.2500C>T (p.Arg834Ter) rs202196166 0.00004
NM_000256.3(MYBPC3):c.2908C>T (p.Arg970Trp) rs730880138 0.00003
NM_000256.3(MYBPC3):c.3181C>T (p.Gln1061Ter) rs397516005 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001032283.3(TMPO):c.1237G>T (p.Val413Leu) rs115843977 0.00003
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) rs190416018 0.00003
NM_001159699.2(FHL1):c.340T>A (p.Ser114Thr) rs756434530 0.00003
NM_001276345.2(TNNT2):c.883G>A (p.Gly295Arg) rs147940106 0.00003
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile) rs749109824 0.00003
NM_002471.4(MYH6):c.5780G>T (p.Arg1927Leu) rs730880152 0.00003
NM_003476.5(CSRP3):c.112+1G>A rs746990436 0.00003
NM_003803.4(MYOM1):c.4799C>T (p.Pro1600Leu) rs372260768 0.00003
NM_005633.4(SOS1):c.3703C>T (p.Pro1235Ser) rs397517168 0.00003
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln) rs730880248 0.00003
NM_013266.4(CTNNA3):c.232C>T (p.Gln78Ter) rs201306690 0.00003
NM_024422.6(DSC2):c.1264-4G>A rs377439942 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 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.927-9G>A rs397516083 0.00002
NM_000257.4(MYH7):c.1856C>T (p.Thr619Ile) rs541143322 0.00002
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys) rs121913630 0.00002
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_000257.4(MYH7):c.733-3C>T rs765068619 0.00002
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125 0.00002
NM_000335.5(SCN5A):c.1975C>T (p.Arg659Trp) rs730880205 0.00002
NM_000335.5(SCN5A):c.328G>A (p.Ala110Thr) rs730880202 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_001005242.3(PKP2):c.1045A>G (p.Met349Val) rs199957846 0.00002
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) rs730880228 0.00002
NM_001035.3(RYR2):c.5006A>G (p.Asn1669Ser) rs727503400 0.00002
NM_001035.3(RYR2):c.8018C>T (p.Ala2673Val) rs869025513 0.00002
NM_001267550.2(TTN):c.64072G>A (p.Val21358Met) rs371725212 0.00002
NM_001267550.2(TTN):c.95415C>A (p.Phe31805Leu) rs587780983 0.00002
NM_001943.5(DSG2):c.2623A>G (p.Met875Val) rs370316475 0.00002
NM_002471.4(MYH6):c.4918G>A (p.Glu1640Lys) rs748924413 0.00002
NM_004281.4(BAG3):c.668C>G (p.Pro223Arg) rs754615028 0.00002
NM_004415.4(DSP):c.6542T>C (p.Val2181Ala) rs730880088 0.00002
NM_004415.4(DSP):c.7924G>A (p.Val2642Ile) rs869025397 0.00002
NM_004517.4(ILK):c.1180G>A (p.Asp394Asn) rs730880112 0.00002
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_007078.3(LDB3):c.494G>A (p.Arg165Gln) rs61857115 0.00002
NM_024422.6(DSC2):c.1219G>T (p.Val407Leu) rs751861273 0.00002
NM_144573.4(NEXN):c.1400T>C (p.Ile467Thr) rs370195451 0.00002
NM_145046.5(CALR3):c.679-7T>C rs730880060 0.00002
NM_000116.5(TAFAZZIN):c.700-5C>T rs782731479 0.00001
NM_000117.3(EMD):c.406G>C (p.Asp136His) rs869025401 0.00001
NM_000256.3(MYBPC3):c.1039G>A (p.Gly347Ser) rs397515884 0.00001
NM_000256.3(MYBPC3):c.206G>A (p.Arg69Gln) rs397515945 0.00001
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3190+2T>G rs113358486 0.00001
NM_000256.3(MYBPC3):c.3253G>T (p.Glu1085Ter) rs397516010 0.00001
NM_000256.3(MYBPC3):c.3331-2A>C rs869025469 0.00001
NM_000256.3(MYBPC3):c.3613C>T (p.Arg1205Trp) rs727503171 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr) rs727503167 0.00001
NM_000256.3(MYBPC3):c.3781G>A (p.Glu1261Lys) rs730880141 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000256.3(MYBPC3):c.436A>C (p.Thr146Pro) rs397516048 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 0.00001
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly) rs267606908 0.00001
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val) rs121913631 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.4135G>A (p.Ala1379Thr) rs397516202 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000335.5(SCN5A):c.4531C>T (p.Arg1511Trp) rs137854602 0.00001
NM_000363.5(TNNI3):c.485G>A (p.Arg162Gln) rs397516354 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln) rs104894369 0.00001
NM_001018005.2(TPM1):c.115-261C>T rs746952638 0.00001
NM_001018005.2(TPM1):c.240+4493G>A rs869025540 0.00001
NM_001018005.2(TPM1):c.644C>T (p.Ser215Leu) rs199476316 0.00001
NM_001032283.3(TMPO):c.565+1485A>G rs730880229 0.00001
NM_001035.3(RYR2):c.10096C>T (p.Leu3366Phe) rs377712921 0.00001
NM_001035.3(RYR2):c.12767T>C (p.Met4256Thr) rs530277653 0.00001
NM_001035.3(RYR2):c.14172G>C (p.Trp4724Cys) rs780752317 0.00001
NM_001103.4(ACTN2):c.1906G>A (p.Glu636Lys) rs780431842 0.00001
NM_001105206.3(LAMA4):c.814+7A>C rs730880124 0.00001
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) rs376463335 0.00001
NM_001159699.2(FHL1):c.812G>C (p.Cys271Ser) rs869025431 0.00001
NM_001267550.2(TTN):c.105935T>G (p.Leu35312Ter) rs779948923 0.00001
NM_001267550.2(TTN):c.2227G>A (p.Ala743Thr) rs370728359 0.00001
NM_001267550.2(TTN):c.57367A>G (p.Thr19123Ala) rs587782985 0.00001
NM_001276345.2(TNNT2):c.136G>C (p.Ala46Pro) rs397516447 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001943.5(DSG2):c.2110A>G (p.Ile704Val) rs141388237 0.00001
NM_001943.5(DSG2):c.2335-7A>G rs528851283 0.00001
NM_002471.4(MYH6):c.1663G>A (p.Asp555Asn) rs730880149 0.00001
NM_002471.4(MYH6):c.182C>T (p.Ala61Val) rs730880148 0.00001
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) rs397516854 0.00001
NM_003803.4(MYOM1):c.3691C>T (p.Arg1231Cys) rs730880166 0.00001
NM_004006.3(DMD):c.2628A>T (p.Glu876Asp) rs869025382 0.00001
NM_004415.4(DSP):c.2644G>A (p.Glu882Lys) rs730880081 0.00001
NM_004415.4(DSP):c.7934T>C (p.Ile2645Thr) rs749682166 0.00001
NM_007078.3(LDB3):c.172G>A (p.Asp58Asn) rs730880127 0.00001
NM_007078.3(LDB3):c.358C>A (p.Pro120Thr) rs587782955 0.00001
NM_013266.4(CTNNA3):c.1073C>A (p.Thr358Asn) rs751471841 0.00001
NM_014391.3(ANKRD1):c.896C>A (p.Thr299Asn) rs751174664 0.00001
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn) rs397517264 0.00001
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn) rs186114650 0.00001
NM_020433.5(JPH2):c.559G>A (p.Gly187Ser) rs869025440 0.00001
NM_020774.4(MIB1):c.758A>G (p.Asn253Ser) rs730880134 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_032578.4(MYPN):c.35T>C (p.Ile12Thr) rs869025490 0.00001
NM_032578.4(MYPN):c.3697A>T (p.Ile1233Phe) rs587782969 0.00001
NM_032588.4(TRIM63):c.650A>G (p.Tyr217Cys) rs730880235 0.00001
NM_033118.4(MYLK2):c.1582C>T (p.Arg528Trp) rs752617053 0.00001
NM_170707.4(LMNA):c.1633C>T (p.Arg545Cys) rs267607613 0.00001
NM_000256.3(MYBPC3):c.1091-1G>A rs730880143
NM_000256.3(MYBPC3):c.1153_1168del (p.Val385fs) rs869025465
NM_000256.3(MYBPC3):c.1351+1G>A rs727503204
NM_000256.3(MYBPC3):c.145_150delinsTGATGAG (p.Ile49_Ser50delinsTer) rs869025462
NM_000256.3(MYBPC3):c.1505_1509del (p.Arg502fs) rs587782957
NM_000256.3(MYBPC3):c.1575T>A (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1575T>G (p.Tyr525Ter) rs397515910
NM_000256.3(MYBPC3):c.1625-1G>A rs869025466
NM_000256.3(MYBPC3):c.1641_1642del (p.Tyr548fs) rs398123279
NM_000256.3(MYBPC3):c.1841A>G (p.Tyr614Cys) rs727503194
NM_000256.3(MYBPC3):c.1886T>C (p.Leu629Pro) rs730880137
NM_000256.3(MYBPC3):c.1927+2T>C rs869025467
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.1934C>T (p.Pro645Leu) rs397515938
NM_000256.3(MYBPC3):c.2097del (p.Asp700fs) rs869025460
NM_000256.3(MYBPC3):c.2288A>G (p.Asn763Ser) rs730880527
NM_000256.3(MYBPC3):c.229G>T (p.Gly77Ter) rs869025459
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2556_2557delinsTCT (p.Gly853fs) rs397515975
NM_000256.3(MYBPC3):c.3043dup (p.Ala1015fs) rs869025468
NM_000256.3(MYBPC3):c.3163A>T (p.Lys1055Ter) rs869025461
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3627+1G>A rs397516031
NM_000256.3(MYBPC3):c.3814+2T>C rs869025470
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000256.3(MYBPC3):c.441_442del (p.Gly148fs) rs869025464
NM_000256.3(MYBPC3):c.710A>C (p.Tyr237Ser) rs397516070
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1178C>T (p.Ala393Val) rs869025477
NM_000257.4(MYH7):c.1331A>C (p.Asn444Thr) rs730880159
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1627G>A (p.Ala543Thr) rs730880160
NM_000257.4(MYH7):c.1820G>A (p.Gly607Asp) rs869025479
NM_000257.4(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.4(MYH7):c.2348G>C (p.Arg783Pro) rs397516142
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2613G>T (p.Lys871Asn) rs869025480
NM_000257.4(MYH7):c.2785G>A (p.Glu929Lys) rs730880161
NM_000257.4(MYH7):c.3622G>A (p.Asp1208Asn) rs730880781
NM_000257.4(MYH7):c.4901G>A (p.Arg1634His) rs545875689
NM_000257.4(MYH7):c.536A>C (p.Glu179Ala) rs869025476
NM_000257.4(MYH7):c.789A>G (p.Ile263Met) rs730880855
NM_000257.4(MYH7):c.793A>T (p.Thr265Ser) rs730880157
NM_000258.3(MYL3):c.170C>A (p.Ala57Asp) rs139794067
NM_000258.3(MYL3):c.383G>A (p.Gly128Asp) rs869025485
NM_000258.3(MYL3):c.447G>A (p.Met149Ile) rs730880162
NM_000258.3(MYL3):c.451G>A (p.Ala151Thr) rs869025486
NM_000258.3(MYL3):c.482-6T>C rs730880163
NM_000258.3(MYL3):c.560-3C>T rs869025488
NM_000258.3(MYL3):c.571C>G (p.His191Asp) rs869025487
NM_000335.5(SCN5A):c.1140+1G>A rs730880210
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000335.5(SCN5A):c.5798G>A (p.Ser1933Asn) rs730880209
NM_000335.5(SCN5A):c.725C>T (p.Ala242Val) rs869025518
NM_000363.5(TNNI3):c.526G>A (p.Val176Met) rs727503501
NM_000363.5(TNNI3):c.566G>A (p.Gly189Glu) rs587782980
NM_000363.5(TNNI3):c.575G>A (p.Arg192His) rs104894729
NM_000432.4(MYL2):c.239C>A (p.Thr80Asn) rs587782965
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.2(TPM1):c.746T>G (p.Leu249Trp) rs786204412
NM_001018005.2(TPM1):c.77A>G (p.Glu26Gly) rs730880234
NM_001035.3(RYR2):c.12379A>C (p.Asn4127His) rs730880197
NM_001035.3(RYR2):c.13276GAA[2] (p.Glu4428del) rs869025516
NM_001035.3(RYR2):c.13285A>T (p.Lys4429Ter) rs869025515
NM_001035.3(RYR2):c.3049A>G (p.Thr1017Ala) rs730880189
NM_001035.3(RYR2):c.3080G>A (p.Arg1027Lys) rs730880190
NM_001035.3(RYR2):c.5204G>A (p.Ser1735Asn) rs869025510
NM_001035.3(RYR2):c.5663G>A (p.Arg1888Gln) rs869025511
NM_001035.3(RYR2):c.6203G>T (p.Arg2068Leu) rs869025512
NM_001035.3(RYR2):c.6793-4G>T rs568936247
NM_001103.4(ACTN2):c.2387G>T (p.Arg796Leu) rs772409484
NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val) rs869025505
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe) rs730880183
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) rs587782973
NM_001159699.2(FHL1):c.813C>G (p.Cys271Trp) rs869025432
NM_001267550.2(TTN):c.12027T>G (p.Tyr4009Ter) rs587782984
NM_001267550.2(TTN):c.15500C>A (p.Pro5167His) rs730880237
NM_001267550.2(TTN):c.34241AAG[2] (p.Glu11416del) rs397517549
NM_001267550.2(TTN):c.53519A>G (p.Lys17840Arg) rs730880240
NM_001276345.2(TNNT2):c.610A>G (p.Thr204Ala) rs587782981
NM_001276345.2(TNNT2):c.878T>A (p.Val293Asp) rs730880233
NM_001318895.3(FHL2):c.340A>G (p.Lys114Glu) rs765271517
NM_001927.4(DES):c.1297C>A (p.Pro433Thr) rs869025381
NM_001927.4(DES):c.1360C>T (p.Arg454Trp) rs267607490
NM_001943.5(DSG2):c.1945G>A (p.Gly649Ser) rs730880078
NM_002294.3(LAMP2):c.1135A>G (p.Ile379Val) rs869025452
NM_002471.4(MYH6):c.1002+3G>A rs869025475
NM_002471.4(MYH6):c.694G>A (p.Gly232Ser) rs587782960
NM_002880.4(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.4(RAF1):c.779C>T (p.Thr260Ile) rs869025501
NM_002880.4(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_003476.5(CSRP3):c.353A>G (p.Glu118Gly) rs869025376
NM_003476.5(CSRP3):c.388G>C (p.Ala130Pro) rs869025377
NM_003803.4(MYOM1):c.1733G>A (p.Arg578His) rs200374196
NM_004006.3(DMD):c.3163-3C>A rs778622512
NM_004006.3(DMD):c.4784C>A (p.Thr1595Lys) rs869025383
NM_004100.5(EYA4):c.662G>A (p.Ser221Asn) rs869025402
NM_004281.4(BAG3):c.284C>T (p.Pro95Leu) rs869025364
NM_004415.4(DSP):c.1315G>A (p.Val439Ile) rs587782941
NM_004415.4(DSP):c.1348C>G (p.Pro450Ala) rs869025390
NM_004415.4(DSP):c.3199G>T (p.Ala1067Ser) rs730880083
NM_004415.4(DSP):c.4973C>T (p.Ser1658Phe) rs202084959
NM_004415.4(DSP):c.5161GAA[2] (p.Glu1723del) rs730880091
NM_004415.4(DSP):c.5379+8C>G rs771984464
NM_004415.4(DSP):c.5441G>A (p.Ser1814Asn) rs730880085
NM_004415.4(DSP):c.6347T>C (p.Ile2116Thr) rs730880087
NM_004415.4(DSP):c.7213C>A (p.Leu2405Ile) rs774401264
NM_004517.4(ILK):c.86dup (p.Asp31fs) rs587782950
NM_004985.5(KRAS):c.528GAA[3] (p.Lys180dup) rs397517043
NM_005159.5(ACTC1):c.1124A>G (p.Lys375Arg) rs869025355
NM_005159.5(ACTC1):c.272C>A (p.Thr91Asn) rs730880037
NM_005159.5(ACTC1):c.751A>G (p.Thr251Ala) rs730880039
NM_005159.5(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) rs373979810
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_007373.4(SHOC2):c.1582C>T (p.Pro528Ser) rs869025524
NM_013266.4(CTNNA3):c.1031C>T (p.Ser344Leu) rs730880072
NM_014391.3(ANKRD1):c.229C>G (p.Gln77Glu) rs869025362
NM_014476.6(PDLIM3):c.773G>A (p.Gly258Glu) rs730880178
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly) rs762111172
NM_016203.4(PRKAG2):c.410A>T (p.Asn137Ile) rs869025498
NM_016203.4(PRKAG2):c.868A>G (p.Lys290Glu) rs869025499
NM_020297.4(ABCC9):c.4157G>A (p.Arg1386His) rs730880035
NM_020433.5(JPH2):c.482C>A (p.Thr161Lys) rs587782951
NM_020433.5(JPH2):c.502A>C (p.Ser168Arg) rs869025439
NM_020774.4(MIB1):c.1322A>G (p.Asn441Ser) rs730880135
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_032578.4(MYPN):c.101G>A (p.Arg34Gln) rs730880168
NM_032578.4(MYPN):c.2981T>G (p.Met994Arg) rs786205348
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter) rs148395034
NM_133379.5(TTN):c.16515_16516insA (p.Glu5506fs) rs730880247
NM_170707.4(LMNA):c.378C>G (p.Asp126Glu) rs869025456

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