Variant inclusion list¶
Variants that are in the curated list of variants below will be prioritised if they are present, providing they pass at least the variant filter status filter (Criterion 1) and segregate with the disease (Criterion 4):
Variant | Gene | ClinVar Accession |
---|---|---|
chr1:94010911:T:A | ABCA4 | VCV000099390 |
chr9:34649445:A:G | GALT | VCV000003613 |
chr11:89284793:G:A | TYR | VCV000003779 |