ClinVar Miner

List of variants reported as likely pathogenic by Laboratory of Genetics and Molecular Cardiology,University of São Paulo

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Total variants: 122
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HGVS dbSNP
NM_000256.3(MYBPC3):c.1357C>T (p.Pro453Ser) rs749310275
NM_000256.3(MYBPC3):c.1358dupC (p.Val454Cysfs) rs727503203
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.1505G>A (p.Arg502Gln) rs397515907
NM_000256.3(MYBPC3):c.1513_1515delAAG (p.Lys505del) rs727504287
NM_000256.3(MYBPC3):c.2065C>T (p.Gln689Ter) rs863224483
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.227_228insA (p.Ser78Ilefs) rs863225111
NM_000256.3(MYBPC3):c.2371C>T (p.Gln791Ter) rs863225106
NM_000256.3(MYBPC3):c.2376G>A (p.Trp792Ter) rs863225112
NM_000256.3(MYBPC3):c.2394dupT (p.Gly799Trpfs) rs730880341
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2441_2443delAGA (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2550_2550del (p.Asn850Lysfs) rs863225105
NM_000256.3(MYBPC3):c.2670_2671insG (p.Arg891Alafs) rs863225104
NM_000256.3(MYBPC3):c.2864_2865delCT (p.Pro955Argfs) rs397515990
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.306_306del (p.Met103Cysfs) rs863225109
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377
NM_000256.3(MYBPC3):c.3300C>A (p.Tyr1100Ter) rs863225113
NM_000256.3(MYBPC3):c.3414_3415insC (p.Val1139Argfs) rs863225114
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3624dupC (p.Lys1209Glnfs) rs397516029
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3662_3662del (p.Leu1221Argfs) rs863225107
NM_000256.3(MYBPC3):c.640G>A (p.Asp214Asn) rs769167548
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.913_914delTT (p.Phe305Profs) rs397516080
NM_000257.2(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.2(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.2(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.3(MYH7):c.1013T>C (p.Val338Ala) rs397516087
NM_000257.3(MYH7):c.1479G>C (p.Met493Ile) rs730880876
NM_000257.3(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
NM_000257.3(MYH7):c.2104A>G (p.Ile702Val) rs863225101
NM_000257.3(MYH7):c.2156G>C (p.Arg719Pro) rs121913641
NM_000257.3(MYH7):c.2201A>C (p.Gln734Pro) rs863225097
NM_000257.3(MYH7):c.2291T>A (p.Phe764Tyr) rs863225102
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2524A>G (p.Ser842Gly) rs863225103
NM_000257.3(MYH7):c.2539_2541delAAG (p.Lys847del) rs397516155
NM_000257.3(MYH7):c.2542_2544del (p.Glu848del) rs863225099
NM_000257.3(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.3(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.3(MYH7):c.2655T>A (p.Asn885Lys) rs863225095
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.3358G>A (p.Glu1120Lys) rs863225098
NM_000257.3(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.3(MYH7):c.4571A>G (p.His1524Arg) rs767148171
NM_000257.3(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.3(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.3(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.755T>G (p.Phe252Cys) rs727505202
NM_000257.3(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.3(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625
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.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg) rs121913638
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>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000364.3(TNNT2):c.653T>C (p.Ile218Thr) rs863225120
NM_000364.3(TNNT2):c.833A>T (p.Asn278Ile) rs863225119
NM_000384.2(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.2(APOB):c.13480_13482delCAG (p.Gln4494del) rs562574661
NM_000384.2(APOB):c.3491G>C (p.Arg1164Thr) rs759845943
NM_000432.3(MYL2):c.125G>A (p.Gly42Asp) rs863225117
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-152C>T rs879254367
NM_000527.4(LDLR):c.1016T>C (p.Leu339Pro) rs879254756
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1210A>T (p.Thr404Ser) rs879254834
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1246C>T (p.Arg416Trp) rs570942190
NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.4(LDLR):c.1269C>G (p.Ile423Met) rs1135402773
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.1463T>C (p.Ile488Thr) rs879254913
NM_000527.4(LDLR):c.1489A>C (p.Thr497Pro) rs879254920
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_000527.4(LDLR):c.1571T>G (p.Val524Gly) rs879254942
NM_000527.4(LDLR):c.1618G>A (p.Ala540Thr) rs769370816
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1871_1873del (p.Ile624del) rs879255062
NM_000527.4(LDLR):c.1897C>T (p.Arg633Cys) rs746118995
NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala) rs879255079
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2088C>G (p.Cys696Trp) rs112954220
NM_000527.4(LDLR):c.2093G>A (p.Cys698Tyr) rs879255136
NM_000527.4(LDLR):c.2312-3C>A rs875989942
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.265T>C (p.Cys89Arg) rs879254455
NM_000527.4(LDLR):c.415G>A (p.Asp139Asn) rs879254517
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.479G>A (p.Cys160Tyr) rs879254541
NM_000527.4(LDLR):c.479_480delGCinsTT (p.Cys160Phe) rs1135402767
NM_000527.4(LDLR):c.503A>C (p.Asp168Ala) rs879254549
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu) rs557344672
NM_000527.4(LDLR):c.673_681dup (p.Asp227_Glu228insLysSerAsp) rs1555803425
NM_000527.4(LDLR):c.682G>C (p.Glu228Gln) rs121908029
NM_000527.4(LDLR):c.81C>G (p.Cys27Trp) rs2228671
NM_000527.4(LDLR):c.828C>G (p.Cys276Trp) rs146651743
NM_000527.4(LDLR):c.953G>T (p.Cys318Phe) rs879254739
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_001001430.2(TNNT2):c.860G>A (p.Trp287Ter) rs727504247
NM_001018005.1(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_003476.4(CSRP3):c.536C>T (p.Thr179Met) rs142019584
NM_003673.3(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_005159.4(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.4(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_014000.2(VCL):c.1531G>T (p.Asp511Tyr) rs863225121
NM_024334.2(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887

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