Add the number of hemizygotes to the gnomAD output for X-linked genes.
From Jenny: For X-linked genes, number of hemizygotes from gnomAD needs to be included. This data is important for assessment of variants in X-linked genes e.g. SLC6A8 as one example.
wrightmw
commented
3 years ago
Add the number of hemizygotes to the gnomAD output for X-linked genes.
From Jenny: For X-linked genes, number of hemizygotes from gnomAD needs to be included. This data is important for assessment of variants in X-linked genes e.g. SLC6A8 as one example.
Example of this output (for ClinVar ID: 255835)
gnomAD shows hemizygote counts for exomes and genomes. https://gnomad.broadinstitute.org/variant/X-38129025-G-T
myvariant.info output for same variant: http://myvariant.info/v1/variant/rs34117835