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Each individual is a carrier of an average of -2.8 pathogenic variants.
Approximately 1 in 4 people (24%) is a carrier of at least 1 gene mutation, and 1 in 20 people (5.2%) is a carrier of multiple gene mutations.
1 in 20 people (5%) is a carrier of a gene mutation, 88% had no prior family history, and 1 in 240 were high-risk carrier couples with a risk of having a child with a gene mutation. This is why carrier screening tests are important.