ClinVar Miner

List of variants reported as likely 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_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845 0.00039
NM_000432.4(MYL2):c.401A>C (p.Glu134Ala) rs143139258 0.00029
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000257.4(MYH7):c.77C>T (p.Ala26Val) rs186964570 0.00021
NM_170707.4(LMNA):c.1201C>T (p.Arg401Cys) rs61094188 0.00015
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg) rs397516050 0.00011
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met) rs199473434 0.00005
NM_000238.4(KCNH2):c.2863C>G (p.Leu955Val) rs199473012 0.00004
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
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_000335.5(SCN5A):c.2657A>C (p.His886Pro) rs199473169 0.00003
NM_001010874.5(TECRL):c.587G>A (p.Arg196Gln) rs773204795 0.00003
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390 0.00002
NM_001134363.3(RBM20):c.1338-1G>T rs1265727354 0.00002
NM_001276345.2(TNNT2):c.341C>T (p.Ala114Val) rs727504245 0.00002
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458 0.00001
NM_000218.3(KCNQ1):c.521G>A (p.Arg174His) rs199472697 0.00001
NM_000256.3(MYBPC3):c.3491-2A>T rs397516022 0.00001
NM_000256.3(MYBPC3):c.481C>A (p.Pro161Thr) rs397516053 0.00001
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His) rs397516187 0.00001
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln) rs397516209 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000335.5(SCN5A):c.1700T>A (p.Leu567Gln) rs199473124 0.00001
NM_000335.5(SCN5A):c.5935G>T (p.Val1979Phe) rs772258197 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 0.00001
NM_000363.5(TNNI3):c.592C>G (p.Leu198Val) rs727504285 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.625T>G (p.Cys209Gly) rs1600711065 0.00001
NM_001018005.2(TPM1):c.842T>C (p.Met281Thr) rs199476321 0.00001
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) rs267607004 0.00001
NM_001267550.2(TTN):c.34612+1G>A rs577363824 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001276345.2(TNNT2):c.490-1G>C rs111344408 0.00001
NM_001276345.2(TNNT2):c.803A>T (p.Lys268Ile) rs397516482 0.00001
NM_001943.5(DSG2):c.391G>A (p.Ala131Thr) rs373542380 0.00001
NM_001943.5(DSG2):c.880A>G (p.Lys294Glu) rs752432726 0.00001
NM_170707.4(LMNA):c.274C>T (p.Leu92Phe) rs267607560 0.00001
NM_170707.4(LMNA):c.725C>T (p.Ala242Val) rs397517906 0.00001
NM_000090.4(COL3A1):c.3472G>C (p.Gly1158Arg) rs587779715
NM_000117.3(EMD):c.265+2T>A rs1603365762
NM_000138.5(FBN1):c.1904A>G (p.Tyr635Cys) rs1555399816
NM_000138.5(FBN1):c.2080G>T (p.Glu694Ter) rs1060501024
NM_000138.5(FBN1):c.2114-2A>G rs886041440
NM_000138.5(FBN1):c.2147G>A (p.Gly716Glu) rs794728185
NM_000138.5(FBN1):c.2419+1G>A rs1555399257
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.2696G>A (p.Gly899Glu) rs1555399094
NM_000138.5(FBN1):c.2920dup (p.Arg974fs) rs1555398825
NM_000138.5(FBN1):c.4192G>A (p.Asp1398Asn) rs1597553721
NM_000138.5(FBN1):c.4629del (p.Asp1543fs) rs2043337738
NM_000138.5(FBN1):c.4649del (p.Ser1550fs) rs1597548716
NM_000138.5(FBN1):c.5016T>G (p.Cys1672Trp) rs1555396848
NM_000138.5(FBN1):c.5073AAG[1] (p.Arg1692del) rs1555396789
NM_000138.5(FBN1):c.8530C>T (p.Gln2844Ter) rs1555393510
NM_000169.3(GLA):c.1042G>C (p.Ala348Pro) rs1603037717
NM_000169.3(GLA):c.869T>C (p.Met290Thr) rs1603038411
NM_000218.3(KCNQ1):c.1024C>T (p.Leu342Phe) rs199472760
NM_000218.3(KCNQ1):c.1049G>T (p.Gly350Val) rs794728524
NM_000218.3(KCNQ1):c.1700T>C (p.Ile567Thr) rs199472805
NM_000218.3(KCNQ1):c.373T>A (p.Tyr125Asn) rs794728578
NM_000218.3(KCNQ1):c.467T>C (p.Leu156Pro) rs1589931156
NM_000238.4(KCNH2):c.1595T>C (p.Leu532Pro) rs1801182500
NM_000238.4(KCNH2):c.1862G>A (p.Ser621Asn) rs199472948
NM_000238.4(KCNH2):c.1874T>C (p.Val625Ala) rs199472951
NM_000238.4(KCNH2):c.2453C>T (p.Ser818Leu) rs121912510
NM_000238.4(KCNH2):c.537_544dup (p.Ser182fs) rs1554427936
NM_000238.4(KCNH2):c.66dup (p.Glu23Ter) rs1554431441
NM_000256.3(MYBPC3):c.1383_1384dup (p.Asp462fs) rs2095890455
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.1622dup (p.Glu542fs) rs1555122143
NM_000256.3(MYBPC3):c.1625-2A>G rs112917345
NM_000256.3(MYBPC3):c.2190del (p.Lys731fs) rs1555121467
NM_000256.3(MYBPC3):c.221C>TT rs1555123743
NM_000256.3(MYBPC3):c.2429G>T (p.Arg810Leu) rs375675796
NM_000256.3(MYBPC3):c.2994G>A (p.Gln998=) rs1555120639
NM_000256.3(MYBPC3):c.3083C>T (p.Thr1028Ile) rs397516002
NM_000256.3(MYBPC3):c.3694A>T (p.Lys1232Ter) rs397516035
NM_000256.3(MYBPC3):c.3771C>A (p.Asn1257Lys) rs730880603
NM_000256.3(MYBPC3):c.3815-1G>A rs397516044
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1318G>A (p.Val440Met) rs397516098
NM_000257.4(MYH7):c.1549C>A (p.Leu517Met) rs727504237
NM_000257.4(MYH7):c.1750G>T (p.Gly584Cys) rs121913626
NM_000257.4(MYH7):c.2744T>C (p.Leu915Pro) rs397516166
NM_000257.4(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.4(MYH7):c.345+1G>A rs112907315
NM_000257.4(MYH7):c.3592G>T (p.Asp1198Tyr) rs730880778
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu) rs397516260
NM_000257.4(MYH7):c.646C>G (p.Leu216Val) rs772488436
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000335.5(SCN5A):c.1A>T (p.Met1Leu) rs1553607722
NM_000335.5(SCN5A):c.2968C>T (p.Gln990Ter) rs1553699747
NM_000335.5(SCN5A):c.3954_3960+1dup rs2061267874
NM_000335.5(SCN5A):c.4434+5G>A rs1057520531
NM_000335.5(SCN5A):c.4978G>A (p.Gly1660Arg) rs199473292
NM_000335.5(SCN5A):c.5263ATC[2] (p.Ile1757del) rs1575705549
NM_000335.5(SCN5A):c.5620_5622dup (p.Met1874dup) rs1474459822
NM_000335.5(SCN5A):c.5894C>G (p.Ser1965Cys) rs1575703249
NM_000363.5(TNNI3):c.438A>T (p.Arg146Ser) rs2085712265
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.149G>A (p.Arg50Gln) rs1465696669
NM_000384.3(APOB):c.7148_7149del (p.Gln2383fs) rs1663251692
NM_000432.4(MYL2):c.80A>G (p.Gln27Arg) rs397516408
NM_000527.5(LDLR):c.1073G>A (p.Cys358Tyr) rs875989915
NM_000527.5(LDLR):c.1109A>C (p.Asn370Thr) rs879254792
NM_000527.5(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1922T>A (p.Leu641Ter) rs2077524952
NM_000527.5(LDLR):c.2146G>T (p.Glu716Ter) rs879255149
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000719.7(CACNA1C):c.1255G>C (p.Gly419Arg) rs786205776
NM_000719.7(CACNA1C):c.32del (p.Pro11fs) rs2052999161
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr) rs199473380
NM_001005242.3(PKP2):c.1785_1803dup (p.Gly602Ter) rs1555142971
NM_001005242.3(PKP2):c.1926T>A (p.Tyr642Ter) rs1444213066
NM_001005242.3(PKP2):c.2358-2A>G rs1956082474
NM_001018005.2(TPM1):c.114G>A (p.Gln38=) rs2031445986
NM_001018005.2(TPM1):c.460A>G (p.Ile154Val) rs1555408679
NM_001035.3(RYR2):c.243G>A (p.Met81Ile) rs1572627115
NM_001035.3(RYR2):c.9848T>A (p.Ile3283Asn) rs1688456281
NM_001103.4(ACTN2):c.1793del (p.Pro598fs) rs1553303871
NM_001103.4(ACTN2):c.2485G>T (p.Glu829Ter) rs770335717
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) rs727504763
NM_001267550.2(TTN):c.102523C>T (p.Arg34175Ter) rs752697861
NM_001267550.2(TTN):c.103857G>A (p.Trp34619Ter) rs1575253896
NM_001267550.2(TTN):c.104950del (p.Glu34984fs) rs727503533
NM_001267550.2(TTN):c.12268C>T (p.Gln4090Ter) rs1574087037
NM_001267550.2(TTN):c.12523_12524del (p.Gln4175fs) rs1574083547
NM_001267550.2(TTN):c.22745_22746del (p.Ser7582fs) rs779549899
NM_001267550.2(TTN):c.40621A>T (p.Lys13541Ter) rs869238992
NM_001267550.2(TTN):c.42315_42318del (p.Lys14105fs) rs878854371
NM_001267550.2(TTN):c.45989dup (p.Thr15331fs) rs1553715911
NM_001267550.2(TTN):c.65655del (p.Thr21886fs) rs1575948935
NM_001267550.2(TTN):c.66770-2A>C rs1553624468
NM_001276345.2(TNNT2):c.385G>C (p.Glu129Gln) rs1571627006
NM_001276345.2(TNNT2):c.445C>T (p.Arg149Cys) rs397516465
NM_001276345.2(TNNT2):c.451del (p.Arg151fs) rs730881115
NM_001276345.2(TNNT2):c.548G>A (p.Arg183Gln) rs397516471
NM_001276345.2(TNNT2):c.784G>A (p.Glu262Lys) rs727504488
NM_001458.5(FLNC):c.5685del (p.Val1896fs) rs1808809268
NM_001458.5(FLNC):c.7385-1G>A rs1585171818
NM_001613.4(ACTA2):c.720G>C (p.Lys240Asn) rs727502878
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.2551del (p.Ile851fs) rs763907170
NM_003238.6(TGFB2):c.622delinsGG (p.His208fs) rs1659897581
NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn) rs886039551
NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) rs199682693
NM_004281.4(BAG3):c.568_577del (p.Ser190fs) rs1847161579
NM_004281.4(BAG3):c.836C>A (p.Ser279Ter) rs751261054
NM_004281.4(BAG3):c.969_972del (p.Lys324fs) rs1589632398
NM_004415.4(DSP):c.2630+1del rs1554107651
NM_004415.4(DSP):c.3466C>T (p.Gln1156Ter) rs1581815654
NM_004415.4(DSP):c.6348_6351del (p.Asp2117fs) rs1759527886
NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro) rs1554701914
NM_005159.5(ACTC1):c.715G>C (p.Glu239Gln) rs1555418785
NM_005902.4(SMAD3):c.1229_1244del (p.Val410fs) rs1555414495
NM_005902.4(SMAD3):c.648del (p.His216fs) rs1555412629
NM_007078.3(LDB3):c.1609del (p.Gln537fs) rs727503129
NM_024422.6(DSC2):c.1913_1916del (p.Gln638fs) rs1452512048
NM_024422.6(DSC2):c.2112_2116del (p.Phe708fs) rs1555637555
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_170707.4(LMNA):c.1494G>T (p.Trp498Cys) rs57730570
NM_170707.4(LMNA):c.296G>C (p.Arg99Pro) rs1572332762

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