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Look Up a Gene Variant

If you are a family or physician with results from a genetic test, enter the "c." or "p." letters and numbers below to see if your child's variant has been found before.

Alternatively, enter just the number of the cDNA position, or just the number of the amino acid position in the appropriate box.

Please do not download or mine the mutation data without asking for permission at to assure that the data are shared in a IRB-compliant manner and that all families of patients with mutations have given proper consent prior to releasing data.



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