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Gene Mutations
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| Records Return:
(2)
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| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| CD40LG | 300386 | 308230 | Xq26 | del580G | | IMMUNODEFICIENCY WITH HYPER-IgM; TYPE 1 | 2 |
| CD40LG | 300386 | 300386 | Xq26 | LEU155PRO | 0004 | IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1 | 1 |
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