owencqueen/cgbench_data huggingface dataset:
Gene: RYR1 (HGNC:10483)
Evidence Code: BS1 — Strong
Modification Type: Disease-specific,Gene-specific
The minor allele frequency using the filtering allele frequency of either exomes or genomes of continental populations in gnomAD is 
≥0.000697 for AR variants
. All populations used should have at least 2000 alleles and >1 observation. 


BA1/BS1 exclusion variants
 (well-known pathogenic variants that are above the specified BA1 or BS1 threshold) are as follows: 


NM_000540.3:c.6721C>T (p.Arg2241Ter)


NM_000540.3:c.10348-6C>G