ClinVar Miner

List of variants reported for Cardiomyopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 139
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HGVS dbSNP gnomAD frequency
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_002471.4(MYH6):c.999C>T (p.Thr333=) rs78107039 0.03596
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_007078.3(LDB3):c.690-4A>G rs45529531 0.00427
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001035.3(RYR2):c.10254C>T (p.Asn3418=) rs138073811 0.00264
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001005242.3(PKP2):c.336+17T>G rs185681814 0.00016
NM_000335.5(SCN5A):c.5181C>T (p.Cys1727=) rs193922726 0.00011
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His) rs193922626 0.00010
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val) rs193922712 0.00006
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly) rs193922671 0.00005
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_020297.4(ABCC9):c.-11T>C rs72559432 0.00004
NM_170707.4(LMNA):c.357-20C>T rs193922724 0.00004
NM_000256.3(MYBPC3):c.1224-52G>A rs786204336 0.00003
NM_001267550.2(TTN):c.49648+2del rs727504851 0.00003
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter) rs387907267 0.00002
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter) rs193922683 0.00002
NM_000256.3(MYBPC3):c.3490+1G>T rs397516020 0.00001
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042 0.00001
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys) rs121913651 0.00001
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_001035.3(RYR2):c.1258C>T (p.Arg420Trp) rs190140598 0.00001
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter) rs1575649368 0.00001
NM_001267550.2(TTN):c.92317C>T (p.Arg30773Ter) rs794729301 0.00001
NM_002471.4(MYH6):c.5508A>G (p.Ala1836=) rs193922654 0.00001
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) rs267607125 0.00001
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs) rs1561701721 0.00001
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter) rs1024095026 0.00001
NM_020778.5(ALPK3):c.4213C>T (p.Arg1405Ter) rs1344615174 0.00001
NM_000039.3(APOA1):c.162G>C (p.Val54=) rs193922099
NM_000116.5(TAFAZZIN):c.777+1G>A rs2068606932
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs) rs2142860924
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs) rs397515943
NM_000256.3(MYBPC3):c.2308+1G>A rs112738974
NM_000256.3(MYBPC3):c.2555dup (p.Gly853fs)
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter) rs866966651
NM_000256.3(MYBPC3):c.3330+2T>A rs387906397
NM_000256.3(MYBPC3):c.350del (p.Pro117fs) rs397516023
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs) rs397516080
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1477A>G (p.Met493Val) rs730880875
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro) rs121913642
NM_000257.4(MYH7):c.2011C>T (p.Arg671Cys) rs727503263
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn) rs397516132
NM_000257.4(MYH7):c.2302G>C (p.Gly768Arg) rs727503260
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile) rs1060505018
NM_000363.5(TNNI3):c.529AAG[1] (p.Lys178del) rs397516351
NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001079802.2(FKTN):c.1023G>A (p.Pro341=) rs146967918
NM_001103.4(ACTN2):c.2577C>T (p.Ala859=) rs193922636
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs) rs797046064
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer) rs886044536
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) rs121964858
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) rs74315379
NM_001458.5(FLNC):c.1549+2T>G rs111806457
NM_001927.4(DES):c.985C>T (p.Gln329Ter) rs759320891
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs) rs1261674855
NM_002471.4(MYH6):c.3979-8del rs193922652
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del) rs193922668
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter) rs1561690319
NM_004415.4(DSP):c.6153C>G (p.Ala2051=) rs193922670
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His) rs267606976
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu) rs193922697
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter) rs1326389765
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020778.5(ALPK3):c.1036_1039dup (p.Pro347fs)
NM_020778.5(ALPK3):c.1642_1645dup (p.Pro549fs)
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer) rs2141567430
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.942+16A>T rs111347888
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs) rs727504825
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs) rs2102898301
NM_170707.4(LMNA):c.1698+1G>C rs1553266337
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs) rs2102901937
NM_170707.4(LMNA):c.569G>A (p.Arg190Gln) rs267607571
NM_170707.4(LMNA):c.639+1G>A rs869125101
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln) rs59332535

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