| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | [Clinical and molecular diagnostics of a cartilage-hair hypoplasia: Two new cases]. | 25616543 | 2015 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | Variable phenotype of severe immunodeficiencies associated with RMRP gene mutations. | 25663137 | 2015 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. | 18804272 | 2008 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | Cartilage hair hypoplasia mutations that lead to RMRP promoter inefficiency or RNA transcript instability. | 17937437 | 2007 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | A novel RMRP mutation in a Spanish patient with cartilage-hair hypoplasia. | 17015150 | 2006 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | RMRP mutations in cartilage-hair hypoplasia. | 16838329 | 2006 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | Consequences of mutations in the non-coding RMRP RNA in cartilage-hair hypoplasia. | 16254002 | 2005 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | RMRP mutations in Japanese patients with cartilage-hair hypoplasia. | 14608646 | 2003 |
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AGCTTCACAGAGTAGT | 0.700 | GeneticVariation | CLINVAR | Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. | 11207361 | 2001 |
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AGCTTCACAGAGTAGT | 0.700 | CausalMutation | CLINVAR |