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.