ClinVar Miner

Variants with conflicting interpretations "benign" from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute and "likely benign" from any submitter

Minimum review status of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute: Collection method of the submission from Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 122
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HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_004572.3(PKP2):c.-116C>T rs187291890 0.48955
NM_000335.5(SCN5A):c.5454T>C (p.Asp1818=) rs1805126 0.44288
NM_032578.4(MYPN):c.3403C>A (p.Pro1135Thr) rs7079481 0.40619
NM_001232.4(CASQ2):c.1185C>T (p.Asp395=) rs7413162 0.39681
NM_032578.4(MYPN):c.1884C>G (p.Phe628Leu) rs10823148 0.39447
NM_032578.4(MYPN):c.2072G>A (p.Ser691Asn) rs10997975 0.39270
NM_032578.4(MYPN):c.2120G>A (p.Ser707Asn) rs7916821 0.39079
NM_000363.5(TNNI3):c.25-8T>A rs3729836 0.35138
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_006514.4(SCN10A):c.3275T>C (p.Leu1092Pro) rs12632942 0.21722
NM_006514.4(SCN10A):c.2884A>G (p.Ile962Val) rs57326399 0.20797
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_000335.5(SCN5A):c.1141-3C>A rs41312433 0.16821
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_001943.5(DSG2):c.2137G>A (p.Glu713Lys) rs79241126 0.05477
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_000363.5(TNNI3):c.198G>A (p.Glu66=) rs3729710 0.03372
NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln) rs35168378 0.02818
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_000257.4(MYH7):c.975C>T (p.Asp325=) rs2231124 0.01865
NM_032578.4(MYPN):c.2410G>A (p.Gly804Arg) rs62620248 0.01839
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001035.3(RYR2):c.4198A>G (p.Ser1400Gly) rs56229512 0.01531
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000257.4(MYH7):c.1002C>T (p.Asn334=) rs34803781 0.01418
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_001943.5(DSG2):c.3243C>T (p.Val1081=) rs11542379 0.01097
NM_004415.4(DSP):c.3510G>A (p.Glu1170=) rs28763964 0.01023
NM_001005242.3(PKP2):c.791C>T (p.Ala264Val) rs62001016 0.01013
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_000257.4(MYH7):c.597A>G (p.Ala199=) rs2069541 0.00853
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_004415.4(DSP):c.*9T>A rs11558732 0.00645
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr) rs142835596 0.00637
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_000257.4(MYH7):c.3153G>A (p.Ala1051=) rs45540831 0.00505
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_004415.4(DSP):c.7995G>A (p.Thr2665=) rs35379048 0.00265
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_000384.3(APOB):c.13369G>A (p.Asp4457Asn) rs183812948 0.00250
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_000257.4(MYH7):c.480C>T (p.Asn160=) rs45500700 0.00178
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239 0.00029
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_000257.4(MYH7):c.1407T>C (p.Asp469=) rs112172952 0.00008
NM_001103.4(ACTN2):c.744C>T (p.Tyr248=) rs749565466 0.00006
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_004415.4(DSP):c.1557C>T (p.Ala519=) rs769629611 0.00003
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000719.7(CACNA1C):c.1126G>A (p.Val376Ile) rs1131653 0.00002
NM_000719.7(CACNA1C):c.4578G>A (p.Pro1526=) rs376555924 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_000256.3(MYBPC3):c.2241C>T (p.Gly747=) rs755910458 0.00001
NM_000384.3(APOB):c.10734C>T (p.Phe3578=) rs773361538 0.00001
NM_000527.5(LDLR):c.783C>T (p.Cys261=) rs1057519663 0.00001
NM_001103.4(ACTN2):c.375C>T (p.Gly125=) rs781385336 0.00001
NM_001148.6(ANK2):c.3882C>T (p.Asn1294=) rs780187690 0.00001
NM_002471.4(MYH6):c.2547G>A (p.Lys849=) rs770629886 0.00001
NM_002471.4(MYH6):c.3876G>A (p.Gln1292=) rs145290322 0.00001
NM_024422.6(DSC2):c.561T>C (p.Tyr187=) rs749063028 0.00001
NM_000218.3(KCNQ1):c.207G>T (p.Ala69=) rs587781009
NM_000238.4(KCNH2):c.1056C>T (p.Pro352=) rs1554427342
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000384.3(APOB):c.10780T>C (p.Trp3594Arg)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.5741A>G (p.Asn1914Ser)
NM_001018005.2(TPM1):c.45G>A (p.Lys15=) rs199476301
NM_001035.3(RYR2):c.14481C>T (p.Ile4827=) rs114303476
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004415.4(DSP):c.741G>T (p.Ala247=) rs2806234
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085

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