Gene Mutations
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Records Return:
(3)
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Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
ALDH3A2 | 609523 | 270200 | 17p11.2 | 2-BP DEL, 1297GA | 0006 | SJOGREN-LARSSON SYNDROME | 2 |
ALDH3A2 | 609523 | 270200 | 17p11.2 | 3-BP DEL/21-BP INS, ALA314GLY, PRO315ALA | 0003 | SJOGREN-LARSSON SYNDROME | 1 |
ALDH3A2 | 609523 | 270200 | 17p11.2 | 5-BP INS, NT 1311 | 0007 | SJOGREN-LARSSON SYNDROME | 1 |
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