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.1358dup (p.Val454fs) 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.1510_1512AAG[1] (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.227dup (p.Ser78fs) 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.2394dup (p.Gly799fs) rs730880341
NM_000256.3(MYBPC3):c.2429G>A (p.Arg810His) rs375675796
NM_000256.3(MYBPC3):c.2432_2434AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2541C>G (p.Tyr847Ter) rs397515974
NM_000256.3(MYBPC3):c.2550del (p.Asn850fs) rs863225105
NM_000256.3(MYBPC3):c.2670dup (p.Arg891fs) rs863225104
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs) rs397515990
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
NM_000256.3(MYBPC3):c.306del (p.Met103fs) 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.3414dup (p.Val1139fs) rs863225114
NM_000256.3(MYBPC3):c.3599T>C (p.Leu1200Pro) rs397516028
NM_000256.3(MYBPC3):c.3624dup (p.Lys1209fs) rs397516029
NM_000256.3(MYBPC3):c.3642G>A (p.Trp1214Ter) rs368765949
NM_000256.3(MYBPC3):c.3662del (p.Leu1221fs) 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_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1013T>C (p.Val338Ala) rs397516087
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.1479G>C (p.Met493Ile) rs730880876
NM_000257.4(MYH7):c.1532T>C (p.Ile511Thr) rs397516110
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.2104A>G (p.Ile702Val) rs863225101
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.2156G>C (p.Arg719Pro) rs121913641
NM_000257.4(MYH7):c.2167C>G (p.Arg723Gly) rs121913630
NM_000257.4(MYH7):c.2191C>T (p.Pro731Ser) rs727504299
NM_000257.4(MYH7):c.2201A>C (p.Gln734Pro) rs863225097
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg) rs121913632
NM_000257.4(MYH7):c.2291T>A (p.Phe764Tyr) rs863225102
NM_000257.4(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.4(MYH7):c.2524A>G (p.Ser842Gly) rs863225103
NM_000257.4(MYH7):c.2539_2541del (p.Lys847del) rs397516155
NM_000257.4(MYH7):c.2542_2544del (p.Glu848del) rs863225099
NM_000257.4(MYH7):c.2555T>C (p.Met852Thr) rs397516157
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158
NM_000257.4(MYH7):c.2655T>A (p.Asn885Lys) rs863225095
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.4(MYH7):c.2893G>A (p.Glu965Lys) rs863225100
NM_000257.4(MYH7):c.3358G>A (p.Glu1120Lys) rs863225098
NM_000257.4(MYH7):c.3645G>C (p.Gln1215His) rs863225096
NM_000257.4(MYH7):c.4031G>A (p.Arg1344Gln) rs797045097
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101
NM_000257.4(MYH7):c.4571A>G (p.His1524Arg) rs767148171
NM_000257.4(MYH7):c.4817G>A (p.Arg1606His) rs373514686
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser) rs369940645
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.755T>G (p.Phe252Cys) rs727505202
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.872C>T (p.Ser291Phe) rs397516272
NM_000257.4(MYH7):c.958G>A (p.Val320Met) rs376897125
NM_000364.4(TNNT2):c.653T>C (p.Ile218Thr) rs863225120
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met)
NM_000384.3(APOB):c.13477_13479CAG[1] (p.Gln4494del) rs562574661
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
NM_000432.4(MYL2):c.125G>A (p.Gly42Asp) rs863225117
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-152C>T
NM_000527.4(LDLR):c.1210A>T (p.Thr404Ser)
NM_000527.4(LDLR):c.1269C>G (p.Ile423Met)
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.4(LDLR):c.1942T>G (p.Ser648Ala)
NM_000527.4(LDLR):c.503A>C (p.Asp168Ala)
NM_000527.4(LDLR):c.542C>T (p.Pro181Leu)
NM_000527.5(LDLR):c.1016T>C (p.Leu339Pro)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1246C>T (p.Arg416Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1489A>C (p.Thr497Pro)
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1571T>G (p.Val524Gly)
NM_000527.5(LDLR):c.1618G>A (p.Ala540Thr)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2088C>G (p.Cys696Trp)
NM_000527.5(LDLR):c.2093G>A (p.Cys698Tyr)
NM_000527.5(LDLR):c.2312-3C>A
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)
NM_000527.5(LDLR):c.415G>A (p.Asp139Asn)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.479G>A (p.Cys160Tyr)
NM_000527.5(LDLR):c.673_681dup (p.Lys225_Asp227dup)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.828C>G (p.Cys276Trp)
NM_000527.5(LDLR):c.953G>T (p.Cys318Phe)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu) rs730881151
NM_001195798.2(LDLR):c.1868_1870TCA[1] (p.Ile624del)
NM_001195800.2(LDLR):c.314-2007_314-2006delinsTT rs1135402767
NM_001276345.2(TNNT2):c.842A>T (p.Asn281Ile) rs863225119
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) rs142019584
NM_003673.4(TCAP):c.157C>T (p.Gln53Ter) rs104894655
NM_005159.5(ACTC1):c.281A>G (p.Asn94Ser) rs767734253
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_014000.3(VCL):c.1531G>T (p.Asp511Tyr) rs863225121
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887

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