CHD7 database - MOLGENIS (original) (raw)

The database currently contains 554 pathogenic mutations in 895 patients, 93 unclassified variants in 98 patients, and 102 benign variants. Published data are available for 709 patients. Data from 364 patients are unpublished.

If you wish to have your data added please follow the instructions found here

You can search by typing any search term in the search field, like cDNA (e.g. '160delC', '232C>T') or protein (e.g. 'Lys643fs', 'Arg2024X') notations of mutations, or specific phenotypes (e.g. 'coloboma').

Available datasets:

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