• Atlas of Cardiac Genetic Variation
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•           Inherited Cardiac Conditions          
  • Hypertrophic Cardiomyopathy - HCM
  • Dilated Cardiomyopathy - DCM
  • Arrhythmogenic RV Cardiomyopathy - ARVC
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• ABCC9ACTC1ACTN2ANK2ANKRD1CALR3CASQ2CAV3CRYABCSRP3CTF1DESDSC2DSG2DSPDTNAEMDFHL1FHL2FXNGLAJPH2JUPKCNE1KCNE2KCNH2KCNJ2KCNQ1KLF10LAMA4LAMP2LDB3LMNAMYBPC3MYH6MYH7MYL2MYL3MYLK2MYOM1MYOZ2MYPNNEXNOBSCNPDLIM3PKP2PLNPRKAG2RBM20RYR2SCN5ASGCDSRITAZTCAPTGFB3TMEM43TNNC1TNNI3TNNT2TPM1TRIM54TRIM55TRIM63TTNTTRVCL

variants in cohorts

The table below lists the rare (MAF<0.0001 in ExAC) protein-altering variants identified in a cohort of patients. As the background population rate of rare protein-altering variants () is greater than this case frequency (), there is no excess of variants in this patient cohort, suggesting that protein-altering variants are not causative for .

References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.