ClinVar Miner

List of variants reported for Hypertrophic cardiomyopathy by Center for Human Genetics, University of Leuven

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Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857 0.00044
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.1790G>A (p.Arg597Gln) rs727503195 0.00005
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_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076 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_000256.3(MYBPC3):c.927-2A>G rs397516082 0.00003
NM_000257.4(MYH7):c.2572C>T (p.Arg858Cys) rs2754158 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.2373dup (p.Trp792fs) rs397515963 0.00002
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 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_000363.5(TNNI3):c.434G>A (p.Arg145Gln) rs397516349 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_014000.3(VCL):c.220A>G (p.Met74Val) rs1196607553 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.2864_2865del (p.Pro955fs) rs397515990 0.00001
NM_000256.3(MYBPC3):c.3098G>A (p.Arg1033Gln) rs397516003 0.00001
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter) rs121909377 0.00001
NM_000256.3(MYBPC3):c.3358C>T (p.Arg1120Cys) rs368721523 0.00001
NM_000256.3(MYBPC3):c.3697C>T (p.Gln1233Ter) rs397516037 0.00001
NM_000257.4(MYH7):c.1324C>T (p.Arg442Cys) rs148808089 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2609G>A (p.Arg870His) rs36211715 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_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.557G>A (p.Arg186Gln) rs397516357 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_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 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_003280.3(TNNC1):c.430A>G (p.Asn144Asp) rs730881061 0.00001
NM_004415.4(DSP):c.8014C>G (p.Gln2672Glu) rs1064793890 0.00001
NM_007078.3(LDB3):c.91C>T (p.Arg31Trp) rs367792378 0.00001
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln) rs121908987 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_000238.4(KCNH2):c.3124C>G (p.Leu1042Val) rs1346047270
NM_000256.3(MYBPC3):c.(2148+1_2149-1)_(2737+1_2738-1)del
NM_000256.3(MYBPC3):c.1142T>A (p.Ile381Asn) rs1565628519
NM_000256.3(MYBPC3):c.1227-1G>T rs113276889
NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) rs1565628078
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.1928-2A>G rs397515937
NM_000256.3(MYBPC3):c.2182G>T (p.Glu728Ter) rs397515954
NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) rs1565625795
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2432AGA[3] (p.Lys814del) rs727504288
NM_000256.3(MYBPC3):c.2543_2544dup (p.Val849fs) rs1595843598
NM_000256.3(MYBPC3):c.2610del (p.Ser871fs) rs397515979
NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) rs190765116
NM_000256.3(MYBPC3):c.2737+1G>A rs727504314
NM_000256.3(MYBPC3):c.2737+2_2737+3del rs1265248322
NM_000256.3(MYBPC3):c.313del (p.Ala105fs) rs1565631424
NM_000256.3(MYBPC3):c.3191-11_3193del rs1565623216
NM_000256.3(MYBPC3):c.3321dup (p.Lys1108fs) rs730880672
NM_000256.3(MYBPC3):c.3404ACT[1] (p.Tyr1136del) rs730880674
NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs) rs1565631381
NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) rs1565622703
NM_000256.3(MYBPC3):c.482C>A (p.Pro161Gln) rs1565631094
NM_000256.3(MYBPC3):c.505+5G>C rs727503219
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) rs774316050
NM_000256.3(MYBPC3):c.821+3G>T rs727503213
NM_000256.3(MYBPC3):c.821+5G>A rs397516077
NM_000256.3(MYBPC3):c.852-2A>G rs1565629792
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000256.3(MYBPC3):c.927_928delGG rs886037902
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1325G>T (p.Arg442Leu) rs730880870
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.1400T>A (p.Ile467Asn) rs730880872
NM_000257.4(MYH7):c.1436A>G (p.Asn479Ser) rs727504236
NM_000257.4(MYH7):c.2047G>C (p.Val683Leu) rs1566532876
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.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro) rs1566531421
NM_000257.4(MYH7):c.2707G>A (p.Glu903Lys) rs730880756
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.4(MYH7):c.788T>C (p.Ile263Thr) rs397516269
NM_000257.4(MYH7):c.952A>C (p.Thr318Pro) rs1566536436
NM_000257.4(MYH7):c.959T>A (p.Val320Glu) rs1566536418
NM_000258.3(MYL3):c.170C>G (p.Ala57Gly) rs139794067
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_000363.5(TNNI3):c.508C>T (p.Arg170Trp) rs727503504
NM_000363.5(TNNI3):c.611G>A (p.Arg204His) rs727504275
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_001018005.1(TPM1):c.640_645del rs1555409659
NM_001018005.2(TPM1):c.184G>C (p.Glu62Gln) rs199476305
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.307A>C (p.Lys103Gln) rs730881122
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_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005751.5(AKAP9):c.11682G>T (p.Gln3894His) rs769718964
NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser) rs1563161306
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
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_181703.4(GJA5):c.586T>G (p.Cys196Gly) rs1553226930

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