ClinVar Miner

List of variants reported as uncertain significance for cardiomyopathy by Center for Human Genetics, University of Leuven

Included ClinVar conditions (522):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp) rs727503234 0.00019
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His) rs202139499 0.00017
NM_001458.5(FLNC):c.5296T>C (p.Trp1766Arg) rs751650734 0.00015
NM_000257.4(MYH7):c.3382G>A (p.Ala1128Thr) rs199552354 0.00011
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424 0.00010
NM_014000.3(VCL):c.829C>A (p.Leu277Met) rs71579353 0.00010
NM_000257.4(MYH7):c.5287G>A (p.Ala1763Thr) rs727504355 0.00009
NM_005477.3(HCN4):c.724C>T (p.Arg242Cys) rs745880598 0.00008
NM_005477.3(HCN4):c.520C>T (p.Pro174Ser) rs542532555 0.00007
NM_001035.3(RYR2):c.2573C>T (p.Thr858Met) rs377068202 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_024422.6(DSC2):c.2603C>T (p.Ser868Phe) rs141873745 0.00006
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000256.3(MYBPC3):c.836G>C (p.Gly279Ala) rs375774648 0.00005
NM_001035.3(RYR2):c.1973A>G (p.Asn658Ser) rs2009813 0.00005
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly) rs199561391 0.00005
NM_000256.3(MYBPC3):c.3800G>A (p.Arg1267His) rs730880142 0.00004
NM_002471.4(MYH6):c.3476C>T (p.Thr1159Met) rs780305056 0.00004
NM_014000.3(VCL):c.2046A>T (p.Leu682Phe) rs565398652 0.00004
NM_017636.4(TRPM4):c.1603G>A (p.Glu535Lys) rs748187859 0.00004
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260 0.00003
NM_000256.3(MYBPC3):c.2683C>T (p.Arg895Cys) rs374976635 0.00003
NM_002471.4(MYH6):c.2827C>T (p.Arg943Cys) rs368912844 0.00003
NM_170707.4(LMNA):c.1517A>C (p.His506Pro) rs878855233 0.00003
NM_000219.6(KCNE1):c.273C>G (p.Asp91Glu) rs146614850 0.00002
NM_000256.3(MYBPC3):c.1458-6G>A rs375347534 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.3637G>A (p.Val1213Met) rs397516182 0.00002
NM_001032283.3(TMPO):c.370C>T (p.Leu124Phe) rs375619307 0.00002
NM_001103.4(ACTN2):c.2386C>T (p.Arg796Cys) rs397516574 0.00002
NM_001148.6(ANK2):c.3652C>T (p.Pro1218Ser) rs754740031 0.00002
NM_001458.5(FLNC):c.3499C>T (p.Arg1167Cys) rs766439553 0.00002
NM_000238.4(KCNH2):c.778G>C (p.Ala260Pro) rs1220897906 0.00001
NM_000256.3(MYBPC3):c.1153G>A (p.Val385Met) rs772073491 0.00001
NM_000256.3(MYBPC3):c.1174G>A (p.Ala392Thr) rs1019697151 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000257.4(MYH7):c.3169G>A (p.Gly1057Ser) rs397516179 0.00001
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln) rs727504325 0.00001
NM_000335.5(SCN5A):c.5846A>G (p.Tyr1949Cys) rs375614054 0.00001
NM_000890.5(KCNJ5):c.616G>A (p.Ala206Thr) rs750424299 0.00001
NM_001018005.2(TPM1):c.82G>A (p.Asp28Asn) rs397516391 0.00001
NM_001035.3(RYR2):c.13093G>A (p.Asp4365Asn) rs372880584 0.00001
NM_001035.3(RYR2):c.1392C>A (p.His464Gln) rs749032742 0.00001
NM_001035.3(RYR2):c.4010A>G (p.Tyr1337Cys) rs765369749 0.00001
NM_001035.3(RYR2):c.4387C>T (p.Arg1463Cys) rs764144130 0.00001
NM_001267550.2(TTN):c.51436+1G>A rs761807131 0.00001
NM_001276345.2(TNNT2):c.886C>T (p.Arg296Cys) rs367785431 0.00001
NM_002471.4(MYH6):c.3220G>A (p.Asp1074Asn) rs375169402 0.00001
NM_002471.4(MYH6):c.5072G>A (p.Arg1691His) rs727504502 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_005751.5(AKAP9):c.2478A>G (p.Ile826Met) rs777349648 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_017636.4(TRPM4):c.739A>T (p.Asn247Tyr) rs1555752067 0.00001
NM_033118.4(MYLK2):c.1189A>G (p.Met397Val) rs1490196764 0.00001
NM_201596.3(CACNB2):c.1276G>A (p.Ala426Thr) rs1336353571 0.00001
NM_000238.4(KCNH2):c.3124C>G (p.Leu1042Val) rs1346047270
NM_000256.3(MYBPC3):c.1142T>A (p.Ile381Asn) rs1565628519
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000257.4(MYH7):c.1128C>A (p.Asp376Glu) rs2231126
NM_000257.4(MYH7):c.1331A>G (p.Asn444Ser) rs730880159
NM_000257.4(MYH7):c.1351C>G (p.Gln451Glu) rs730880871
NM_000257.4(MYH7):c.2047G>C (p.Val683Leu) rs1566532876
NM_000258.3(MYL3):c.452C>T (p.Ala151Val) rs876657895
NM_000335.5(SCN5A):c.3792G>T (p.Lys1264Asn) rs1553696666
NM_000363.5(TNNI3):c.298C>T (p.Leu100Phe) rs773216333
NM_001018005.2(TPM1):c.787C>G (p.Gln263Glu) rs730881147
NM_001018005.2(TPM1):c.851T>C (p.Ile284Thr) rs745520822
NM_001035.3(RYR2):c.11230del (p.Ile3744fs) rs1558350625
NM_001035.3(RYR2):c.4186G>A (p.Asp1396Asn) rs1553515422
NM_001103.4(ACTN2):c.253C>T (p.Pro85Ser) rs1558232396
NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn) rs759970012
NM_001276345.2(TNNT2):c.884G>A (p.Gly295Glu) rs1272169178
NM_001289808.2(CRYAB):c.458C>T (p.Ser153Phe) rs868980796
NM_001458.5(FLNC):c.1571A>G (p.Lys524Arg) rs753176255
NM_001458.5(FLNC):c.4708G>T (p.Gly1570Cys) rs1562999563
NM_001458.5(FLNC):c.6947A>G (p.Lys2316Arg) rs1563003855
NM_001458.5(FLNC):c.7427A>G (p.His2476Arg) rs1563005164
NM_003239.5(TGFB3):c.787G>C (p.Asp263His) rs796051886
NM_003476.5(CSRP3):c.191G>T (p.Arg64Leu) rs375014380
NM_004415.4(DSP):c.4166G>A (p.Ser1389Asn) rs763523853
NM_004415.4(DSP):c.5570A>C (p.Lys1857Thr) rs1178938416
NM_004588.5(SCN2B):c.332C>T (p.Ser111Leu) rs868793059
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His) rs769718964
NM_016599.5(MYOZ2):c.29A>G (p.Gln10Arg) rs76757102
NM_032578.4(MYPN):c.2189C>G (p.Thr730Arg) rs373040567
NM_032578.4(MYPN):c.3006C>G (p.Cys1002Trp) rs1321971649
NM_033118.4(MYLK2):c.1741C>T (p.Arg581Cys) rs766199082
NM_172201.2(KCNE2):c.285G>T (p.Lys95Asn) rs1555837113
NM_181703.4(GJA5):c.586T>G (p.Cys196Gly) rs1553226930

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