ClinVar Miner

List of variants reported as likely pathogenic by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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ClinVar version:
Total variants: 186
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HGVS dbSNP
NC_012920.1:m.14484T>C rs199476104
NM_000090.3(COL3A1):c.1744G>A (p.Gly582Ser) rs121912923
NM_000169.2(GLA):c.1125_1140del16 (p.Val376Profs) rs876661347
NM_000218.2(KCNQ1):c.1033G>A (p.Gly345Arg) rs199473471
NM_000218.2(KCNQ1):c.1075C>T (p.Gln359Ter) rs397508075
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1121T>A (p.Leu374His) rs199472767
NM_000218.2(KCNQ1):c.1257delG (p.Lys422Serfs) rs1554895166
NM_000218.2(KCNQ1):c.1383T>A (p.Tyr461Ter) rs794728527
NM_000218.2(KCNQ1):c.1394-1G>T rs775537394
NM_000218.2(KCNQ1):c.1565A>C (p.Tyr522Ser) rs199472789
NM_000218.2(KCNQ1):c.1697C>T (p.Ser566Phe) rs199472804
NM_000218.2(KCNQ1):c.1781G>A (p.Arg594Gln) rs199472815
NM_000218.2(KCNQ1):c.521G>A (p.Arg174His) rs199472697
NM_000218.2(KCNQ1):c.573_577delGCGCT (p.Arg192Cysfs) rs397508118
NM_000218.2(KCNQ1):c.580G>C (p.Ala194Pro) rs199472699
NM_000218.2(KCNQ1):c.674C>T (p.Ser225Leu) rs199473456
NM_000218.2(KCNQ1):c.724G>A (p.Asp242Asn) rs199472712
NM_000218.2(KCNQ1):c.775C>T (p.Arg259Cys) rs199472719
NM_000218.2(KCNQ1):c.797T>C (p.Leu266Pro) rs199473460
NM_000218.2(KCNQ1):c.830C>T (p.Ser277Leu) rs199472730
NM_000218.2(KCNQ1):c.973G>A (p.Gly325Arg) rs199472756
NM_000219.3(KCNE1):c.137A>G (p.Tyr46Cys) rs1402178514
NM_000238.3(KCNH2):c.1128G>A (p.Gln376=) rs770047651
NM_000238.3(KCNH2):c.1838C>T (p.Thr613Met) rs199473524
NM_000238.3(KCNH2):c.1882G>A (p.Gly628Ser) rs121912507
NM_000238.3(KCNH2):c.215C>A (p.Pro72Gln) rs199473421
NM_000238.3(KCNH2):c.3095_3099dup (p.Pro1034Glyfs) rs794728467
NM_000238.3(KCNH2):c.3099_3109delGCCCCGGGGCG (p.Pro1034Argfs) rs794728466
NM_000256.3(MYBPC3):c.1015C>T (p.Gln339Ter) rs730880631
NM_000256.3(MYBPC3):c.1084dupA (p.Ser362Lysfs) rs730880723
NM_000256.3(MYBPC3):c.1090G>A (p.Ala364Thr) rs794727046
NM_000256.3(MYBPC3):c.1224-2A>G rs397515891
NM_000256.3(MYBPC3):c.1227-2A>G rs730880531
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) rs730880544
NM_000256.3(MYBPC3):c.1577_1580dupCACT (p.Cys528Thrfs) rs730880712
NM_000256.3(MYBPC3):c.1624+4A>T rs397515916
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln) rs121909374
NM_000256.3(MYBPC3):c.1687delG (p.Val563Cysfs) rs876661363
NM_000256.3(MYBPC3):c.1838dupA (p.Asp613Glufs) rs730880649
NM_000256.3(MYBPC3):c.1898-1G>A rs730880558
NM_000256.3(MYBPC3):c.2048G>A (p.Trp683Ter) rs397515942
NM_000256.3(MYBPC3):c.2374T>C (p.Trp792Arg) rs187830361
NM_000256.3(MYBPC3):c.2490dupT (p.His831Serfs) rs397515966
NM_000256.3(MYBPC3):c.2670G>A (p.Trp890Ter) rs397515982
NM_000256.3(MYBPC3):c.2792dupT (p.Lys932Glufs) rs730880716
NM_000256.3(MYBPC3):c.2833_2834delCG (p.Arg945Glyfs) rs397515987
NM_000256.3(MYBPC3):c.2869dupA (p.Thr957Asnfs) rs876661365
NM_000256.3(MYBPC3):c.2905+1G>A rs397515991
NM_000256.3(MYBPC3):c.305_308dup (p.Met103Ilefs) rs1555123633
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3217dupC (p.Arg1073Profs) rs730880668
NM_000256.3(MYBPC3):c.3297dupG (p.Tyr1100Valfs) rs397516014
NM_000256.3(MYBPC3):c.3330+2T>G rs387906397
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3713T>C (p.Leu1238Pro) rs730880702
NM_000256.3(MYBPC3):c.3742_3759dup18 (p.Cys1253_Arg1254insGlyGlyIleTyrValCys) rs193922384
NM_000256.3(MYBPC3):c.3782_3792delAGGCACGGTGTinsCCTG (p.Glu1261Alafs) rs1085307897
NM_000256.3(MYBPC3):c.459delC (p.Ile154Leufs) rs397516052
NM_000256.3(MYBPC3):c.551dupT (p.Lys185Glufs) rs397516059
NM_000256.3(MYBPC3):c.655G>C (p.Val219Leu) rs397516068
NM_000256.3(MYBPC3):c.821+1G>A rs397516073
NM_000256.3(MYBPC3):c.833delG (p.Gly278Glufs) rs727503212
NM_000256.3(MYBPC3):c.851+1G>A rs876661368
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.2(MYH7):c.1012G>A (p.Val338Met) rs727503271
NM_000257.2(MYH7):c.1208G>T (p.Arg403Leu) rs121913624
NM_000257.2(MYH7):c.5378T>C (p.Leu1793Pro) rs121913654
NM_000257.3(MYH7):c.1324C>T (p.Arg442Cys) rs148808089
NM_000257.3(MYH7):c.1491G>T (p.Glu497Asp) rs267606911
NM_000257.3(MYH7):c.1573G>A (p.Glu525Lys) rs606231324
NM_000257.3(MYH7):c.1954A>G (p.Arg652Gly) rs727504239
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.3(MYH7):c.427C>T (p.Arg143Trp) rs727503278
NM_000257.3(MYH7):c.4498C>T (p.Arg1500Trp) rs45544633
NM_000257.3(MYH7):c.505A>G (p.Arg169Gly) rs727504267
NM_000257.3(MYH7):c.5305C>A (p.Leu1769Met) rs139222507
NM_000257.3(MYH7):c.5399C>T (p.Ala1800Val) rs730880817
NM_000257.3(MYH7):c.596C>T (p.Ala199Val) rs727504283
NM_000257.3(MYH7):c.611G>A (p.Arg204His) rs397516260
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.1358G>A (p.Arg453His) rs397516101
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.2207T>C (p.Ile736Thr) rs727503261
NM_000257.4(MYH7):c.2221G>T (p.Gly741Trp) rs121913632
NM_000257.4(MYH7):c.2608C>T (p.Arg870Cys) rs138049878
NM_000257.4(MYH7):c.2681A>G (p.Glu894Gly) rs397516161
NM_000257.4(MYH7):c.4066G>A (p.Glu1356Lys) rs727503246
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.5135G>A (p.Arg1712Gln) rs193922390
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000258.2(MYL3):c.64G>A (p.Ala22Thr)
NM_000335.4(SCN5A):c.5126C>T (p.Ser1709Leu) rs137854604
NM_000363.4(TNNI3):c.204delG (p.Arg69Alafs) rs727504872
NM_000363.4(TNNI3):c.422G>A (p.Arg141Gln) rs397516347
NM_000363.4(TNNI3):c.433C>T (p.Arg145Trp) rs104894724
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000363.4(TNNI3):c.497C>T (p.Ser166Phe) rs727504242
NM_000363.4(TNNI3):c.509G>A (p.Arg170Gln) rs727503503
NM_000363.4(TNNI3):c.523C>T (p.Gln175Ter) rs876661394
NM_000371.3(TTR):c.130C>T (p.Pro44Ser) rs11541790
NM_000371.3(TTR):c.238A>G (p.Thr80Ala) rs121918070
NM_000371.3(TTR):c.407A>C (p.Tyr136Ser) rs730881167
NM_000384.3(APOB):c.2096C>T (p.Pro699Leu)
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000432.3(MYL2):c.484G>A (p.Gly162Arg) rs199474814
NM_000527.4(LDLR):c.1061-1G>C rs879254774
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1811delGinsCT (p.Arg604Thrfs) rs1555806529
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.2311+10G>A
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.420G>T (p.Glu140Asp) rs879254520
NM_000527.4(LDLR):c.519C>G (p.Cys173Trp) rs769318035
NM_000719.6(CACNA1C):c.1552C>T (p.Arg518Cys) rs786205748
NM_001001430.2(TNNT2):c.280C>T (p.Arg94Cys) rs727503513
NM_001001430.2(TNNT2):c.281G>T (p.Arg94Leu) rs397516457
NM_001001430.2(TNNT2):c.328T>C (p.Phe110Leu) rs121964858
NM_001001430.2(TNNT2):c.388C>T (p.Arg130Cys) rs397516463
NM_001001430.2(TNNT2):c.517C>T (p.Arg173Trp) rs727503512
NM_001001430.2(TNNT2):c.518G>A (p.Arg173Gln) rs397516471
NM_001001430.2(TNNT2):c.571-1G>A rs483352835
NM_001001430.2(TNNT2):c.614G>A (p.Arg205Gln) rs121964860
NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) rs727504247
NM_001018005.1(TPM1):c.574G>A (p.Glu192Lys) rs199476315
NM_001018005.1(TPM1):c.644C>T (p.Ser215Leu) rs199476316
NM_001018005.1(TPM1):c.64G>A (p.Ala22Thr) rs397516382
NM_001035.2(RYR2):c.1259G>A (p.Arg420Gln) rs794728721
NM_001035.2(RYR2):c.14251A>G (p.Lys4751Glu) rs794728802
NM_001035.2(RYR2):c.14288A>G (p.Asn4763Ser) rs794728803
NM_001035.2(RYR2):c.790G>C (p.Gly264Arg) rs794728713
NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001134363.2(RBM20):c.2737G>A (p.Glu913Lys) rs397516607
NM_001251987.1(TRDN):c.568dupA (p.Ile190Asnfs) rs1085307100
NM_001256850.1(TTN):c.47384_47387dupTTGA (p.Glu15796Aspfs) rs794729323
NM_001256850.1(TTN):c.57294T>A (p.Tyr19098Ter) rs727503586
NM_001256850.1(TTN):c.58678C>T (p.Arg19560Ter) rs764243269
NM_001256850.1(TTN):c.70405C>T (p.Arg23469Ter) rs794729382
NM_001256850.1(TTN):c.70740delA (p.Lys23580Asnfs) rs1131691542
NM_001256850.1(TTN):c.71474_71475delTA (p.Ile23825Argfs) rs794729342
NM_001256850.1:c.69122delG
NM_001267550.2(TTN):c.47269+2T>C rs1060500419
NM_001267550.2(TTN):c.52077_52078delAGinsT (p.Lys17359Asnfs)
NM_001267550.2(TTN):c.53259delA (p.Lys17753Asnfs) rs1389777522
NM_001267550.2(TTN):c.66039delC (p.Ser22014Alafs) rs1553628052
NM_001267550.2(TTN):c.94182_94183insAGCAGCT (p.Leu31395Serfs) rs1219954334
NM_001267550.2(TTN):c.94939delA (p.Ile31647Leufs) rs1553521978
NM_001613.2(ACTA2):c.773G>A (p.Arg258His) rs121434527
NM_001943.4(DSG2):c.137G>A (p.Arg46Gln) rs121913008
NM_002294.2(LAMP2):c.929-1G>A rs727504262
NM_004281.3(BAG3):c.100_107delACCGGCTG (p.Thr34Alafs) rs727505283
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004281.3(BAG3):c.699C>A (p.Tyr233Ter) rs876661342
NM_004387.3(NKX2-5):c.443delC (p.Ala148Glyfs) rs876661381
NM_004387.3(NKX2-5):c.605_606delTG (p.Leu202Argfs) rs1554093461
NM_004415.2(DSP):c.4822C>T (p.Gln1608Ter) rs1060500610
NM_004415.2(DSP):c.7491_7492delTG (p.Cys2497Terfs) rs754354190
NM_004415.2(DSP):c.939+1G>A rs727504443
NM_004415.3(DSP):c.1790C>T (p.Ser597Leu) rs606231294
NM_004415.3(DSP):c.5460dup (p.Val1821Serfs) rs1554108609
NM_004572.3(PKP2):c.1849C>T (p.Gln617Ter) rs201405287
NM_004572.3(PKP2):c.2554delG (p.Glu852Asnfs) rs1353074803
NM_004572.3:c.2240delA
NM_004612.2(TGFBR1):c.679G>A (p.Glu227Lys) rs1060502042
NM_004612.4(TGFBR1):c.974-2A>C
NM_005159.4(ACTC1):c.275_277delTCT (p.Phe92del) rs730880388
NM_005184.2(CALM3):c.281A>C (p.Asp94Ala) rs1060502608
NM_133378.4(TTN):c.49028dup (p.Asp16343Glufs) rs397517626
NM_133378.4(TTN):c.51930delT (p.Pro17312Hisfs) rs876661398
NM_133378.4(TTN):c.91792G>T (p.Glu30598Ter) rs886038825
NM_170707.2(LMNA):c.356G>C (p.Arg119Pro) rs397517902
NM_170707.2(LMNA):c.640-10A>G rs80356807
NM_170707.2(LMNA):c.736C>T (p.Gln246Ter) rs267607587
NM_170707.3(LMNA):c.1129C>T (p.Arg377Cys) rs397517889
NM_170707.3(LMNA):c.1294C>T (p.Gln432Ter) rs267607618
NM_170707.3(LMNA):c.1622G>A (p.Arg541His) rs61444459
NM_170707.3(LMNA):c.398G>A (p.Arg133Gln) rs60864230
NM_198056.2(SCN5A):c.2440C>T (p.Arg814Trp) rs199473161
NM_198056.2(SCN5A):c.2893C>T (p.Arg965Cys) rs199473180
NM_198056.2(SCN5A):c.4931G>A (p.Arg1644His) rs28937316
NM_198056.2(SCN5A):c.5464_5467delTCTG (p.Glu1823Hisfs) rs794728924

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