ClinVar Miner

List of variants reported as pathogenic by Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute

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ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp) rs375882485 0.00010
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374 0.00006
NM_001267550.2(TTN):c.61876C>T (p.Arg20626Ter) rs72646846 0.00006
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 0.00005
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter) rs17215500 0.00003
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 0.00002
NM_000138.5(FBN1):c.6354C>T (p.Ile2118=) rs112989722 0.00001
NM_000218.3(KCNQ1):c.1615C>T (p.Arg539Trp) rs199472795 0.00001
NM_000218.3(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456 0.00001
NM_000237.3(LPL):c.701C>T (p.Pro234Leu) rs118204060 0.00001
NM_000237.3(LPL):c.829G>A (p.Asp277Asn) rs118204068 0.00001
NM_000256.3(MYBPC3):c.821+1G>A rs397516073 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp) rs121913637 0.00001
NM_000335.5(SCN5A):c.1100G>A (p.Arg367His) rs28937318 0.00001
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492 0.00001
NM_000527.5(LDLR):c.2167G>T (p.Glu723Ter) rs1057516127 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_001005242.3(PKP2):c.1780C>T (p.Gln594Ter) rs397517012 0.00001
NM_001267550.2(TTN):c.48283C>T (p.Arg16095Ter) rs374140736 0.00001
NM_001276345.2(TNNT2):c.360T>G (p.Phe120Leu) rs727504331 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_002471.4(MYH6):c.735T>G (p.Phe245Leu) rs1263987728 0.00001
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_004415.4(DSP):c.939+1G>A rs727504443 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_000090.4(COL3A1):c.4267G>T (p.Glu1423Ter) rs1553510000
NM_000138.5(FBN1):c.1760G>A (p.Cys587Tyr) rs1555399963
NM_000138.5(FBN1):c.2216G>A (p.Cys739Tyr) rs1555399378
NM_000138.5(FBN1):c.3373C>T (p.Arg1125Ter) rs727505006
NM_000138.5(FBN1):c.3G>T (p.Met1Ile) rs886039072
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.5(FBN1):c.4615C>T (p.Arg1539Ter) rs111231312
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.5626T>C (p.Cys1876Arg) rs1555395980
NM_000138.5(FBN1):c.5666G>A (p.Cys1889Tyr) rs1566899500
NM_000138.5(FBN1):c.7180C>T (p.Arg2394Ter) rs397515848
NM_000169.3(GLA):c.902G>A (p.Arg301Gln) rs104894828
NM_000218.3(KCNQ1):c.1014CTT[1] (p.Phe340del) rs397508068
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1135T>C (p.Trp379Arg) rs199472768
NM_000218.3(KCNQ1):c.1513C>T (p.Gln505Ter) rs397508091
NM_000218.3(KCNQ1):c.1760C>T (p.Thr587Met) rs120074189
NM_000218.3(KCNQ1):c.502G>C (p.Gly168Arg) rs179489
NM_000218.3(KCNQ1):c.603_604+9del rs794728580
NM_000218.3(KCNQ1):c.608T>C (p.Leu203Pro) rs199472823
NM_000218.3(KCNQ1):c.919_921+9del rs794728557
NM_000238.4(KCNH2):c.1841C>T (p.Ala614Val) rs199472944
NM_000238.4(KCNH2):c.3054del (p.Thr1019fs) rs1554424138
NM_000256.3(MYBPC3):c.1000G>T (p.Glu334Ter) rs573916965
NM_000256.3(MYBPC3):c.1038_1042dup (p.Met348fs) rs730880336
NM_000256.3(MYBPC3):c.1120C>T (p.Gln374Ter) rs730880635
NM_000256.3(MYBPC3):c.1183A>T (p.Lys395Ter) rs1233894123
NM_000256.3(MYBPC3):c.1897+1G>A rs397515935
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2149-2del rs1555121488
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2309-2A>G rs111729952
NM_000256.3(MYBPC3):c.2311dup (p.Val771fs) rs397515960
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2789del (p.Leu930fs) rs876657705
NM_000256.3(MYBPC3):c.2920C>T (p.Gln974Ter) rs727503180
NM_000256.3(MYBPC3):c.3192dup (p.Lys1065fs) rs397516007
NM_000256.3(MYBPC3):c.3293G>A (p.Trp1098Ter) rs397516013
NM_000256.3(MYBPC3):c.3327del (p.Met1110fs) rs730880719
NM_000256.3(MYBPC3):c.357del (p.Ala120fs) rs869025463
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup) rs193922384
NM_000256.3(MYBPC3):c.416C>G (p.Ser139Ter) rs730880704
NM_000256.3(MYBPC3):c.551dup (p.Lys185fs) rs397516059
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.901A>T (p.Lys301Ter) rs730880629
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg) rs121913626
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000335.5(SCN5A):c.1218C>G (p.Asn406Lys) rs199473108
NM_000335.5(SCN5A):c.1231G>A (p.Val411Met) rs72549410
NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs) rs794728906
NM_000335.5(SCN5A):c.1603C>T (p.Arg535Ter) rs1417036453
NM_000335.5(SCN5A):c.3992del (p.Pro1331fs) rs727504801
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1048C>T (p.Arg350Ter)
NM_000527.5(LDLR):c.1099_1104delinsGT (p.Leu367fs)
NM_000527.5(LDLR):c.1102T>C (p.Cys368Arg) rs879254791
NM_000527.5(LDLR):c.1135T>C (p.Cys379Arg)
NM_000527.5(LDLR):c.1216C>A (p.Arg406=) rs121908043
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1257C>G (p.Tyr419Ter) rs774439908
NM_000527.5(LDLR):c.1382del (p.Gly461fs) rs1600727337
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.2000G>A (p.Cys667Tyr) rs28942083
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2447_2450dup (p.Asn817fs) rs387906302
NM_000527.5(LDLR):c.313_313+1del rs875989896
NM_000527.5(LDLR):c.314-1G>A rs879254471
NM_000527.5(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000527.5(LDLR):c.648dup (p.Asp217Ter) rs875989903
NM_000527.5(LDLR):c.675_681dup (p.Glu228delinsIleTer) rs1555803426
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.938_939delinsAT (p.Cys313Tyr) rs875989910
NM_000891.3(KCNJ2):c.653G>A (p.Arg218Gln) rs199473384
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.273_277del (p.His91_Leu92insTer) rs1555148259
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) rs267607003
NM_001256850.1(TTN):c.86916dup (p.Val28973fs) rs730880365
NM_001267550.2(TTN):c.45107del (p.Asn15036fs) rs2058305359
NM_001267550.2(TTN):c.51525del (p.Ser17177fs) rs1553692435
NM_001267550.2(TTN):c.51581G>A (p.Trp17194Ter) rs1553692290
NM_001267550.2(TTN):c.51654C>G (p.Tyr17218Ter) rs1131691655
NM_001267550.2(TTN):c.53653G>T (p.Glu17885Ter) rs727503607
NM_001267550.2(TTN):c.53984del (p.Met17995fs) rs1553682326
NM_001267550.2(TTN):c.55639C>T (p.Gln18547Ter) rs2053403381
NM_001267550.2(TTN):c.56831T>A (p.Leu18944Ter) rs2052528941
NM_001267550.2(TTN):c.65890A>T (p.Lys21964Ter) rs2048015439
NM_001267550.2(TTN):c.68449C>T (p.Arg22817Ter) rs371678190
NM_001267550.2(TTN):c.68823C>A (p.Tyr22941Ter) rs200717463
NM_001267550.2(TTN):c.68923_68924insT (p.Pro22975fs) rs1553617407
NM_001267550.2(TTN):c.69880del (p.Thr23294fs) rs1553614987
NM_001267550.2(TTN):c.71437_71440dup (p.Thr23814fs) rs1709445083
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.72347del (p.Asn24116fs) rs1553609675
NM_001267550.2(TTN):c.72663del (p.Pro24223fs) rs1575775337
NM_001267550.2(TTN):c.72826del (p.Thr24276fs) rs971618751
NM_001267550.2(TTN):c.72848_72849del (p.Lys24283fs) rs794729339
NM_001267550.2(TTN):c.76179_76180insAACTTAGTGAACCAAGCCCTCCT (p.Ser25394fs) rs878854335
NM_001267550.2(TTN):c.76717C>T (p.Arg25573Ter) rs767450912
NM_001267550.2(TTN):c.76904dup (p.Asn25635fs) rs1553601017
NM_001267550.2(TTN):c.78947dup (p.Ser26317fs) rs1553592841
NM_001267550.2(TTN):c.81037C>T (p.Arg27013Ter) rs869038795
NM_001267550.2(TTN):c.81724G>T (p.Glu27242Ter) rs868349549
NM_001267550.2(TTN):c.82657G>T (p.Gly27553Ter) rs869178171
NM_001267550.2(TTN):c.85295del (p.Leu28432fs) rs1575616801
NM_001267550.2(TTN):c.86076dup (p.Ser28693fs) rs1285329277
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer) rs727504856
NM_001267550.2(TTN):c.88825C>T (p.Arg29609Ter) rs766450773
NM_001267550.2(TTN):c.90706G>T (p.Glu30236Ter) rs974510652
NM_001267550.2(TTN):c.93166C>T (p.Arg31056Ter) rs72648250
NM_001267550.2(TTN):c.94291G>T (p.Glu31431Ter) rs1697595705
NM_001267550.2(TTN):c.97492+1G>C rs727505319
NM_001276345.2(TNNT2):c.328_333del (p.Asn110_Glu111del) rs1571627587
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs) rs774150500
NM_001927.4(DES):c.1034T>C (p.Leu345Pro) rs57639980
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro) rs727504292
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) rs863223852
NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys) rs104893809
NM_004281.4(BAG3):c.925C>T (p.Arg309Ter) rs869248137
NM_004415.4(DSP):c.1054_1059delinsCA (p.Asp352fs) rs1064793435
NM_004415.4(DSP):c.1762C>T (p.Gln588Ter) rs1581805658
NM_004415.4(DSP):c.4198C>T (p.Arg1400Ter) rs770873593
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter) rs1057515421
NM_170707.4(LMNA):c.1494G>A (p.Trp498Ter) rs57730570
NM_170707.4(LMNA):c.1609-3C>G rs267607581

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