ClinVar Miner

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

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Total variants: 63
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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_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_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_001035.3(RYR2):c.3599-9del rs11331089
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114

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