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ALLELIC VARIANTS
Selected examples
Allelic variants are given a 10 digit number: the 6-digit number
of the parent locus followed by a decimal point and a unique 4-digit
variant number.
Note that for most genes, only selected mutations are included as
specific subentries. Criteria for inclusion include: the first
mutation to be discovered, high population frequency, distinctive
phenotype, historic significance, unusual mechanism of mutation,
unusual pathogenetic mechanism, and distinctive inheritance (e.g., dominant
with some mutations, recessive with other mutations in the same gene).
Most of the allelic variants represent disease-producing mutations. A
few polymorphisms are included, many of which show a positive statistical
correlation with particular common disorders.
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