Evidence finder variant level

This table provides links to genetic databases ClinVar and HGMD for variants reported as GoF/LoF. This data was compiled from the work of (Bayrak et al., 2021) doi: 10.1016/j.ajhg.2021.10.007 in addition to ClinVar/HGMD. Some data has been simplified or omitted to produce a responsive reference table. For extended information including the evidence summary see external links.

Last update: 2021-11-25

Show gene-level evidence from ClinGen.

References

  1. Bayrak, C. S., Stein, D., Jain, A., Chaudhary, K., Nadkarni, G. N., Van Vleck, T. T., Puel, A., Boisson-Dupuis, S., Okada, S., Stenson, P. D., & others. (2021). Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants. The American Journal of Human Genetics.
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Maintained by Dylan Lawless. Scientist at EPFL. Resume and Google scholar. RSS feed