| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.800 | CausalMutation | CLINVAR | Complexities of gender assignment in 17β-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy? | 24025597 | 2013 |
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|
A | 0.800 | CausalMutation | CLINVAR | 17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings. | 22212252 | 2011 |
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|
A | 0.800 | CausalMutation | CLINVAR | Isolated mild clitoral hypertrophy may reveal 46,XY disorders of sex development in infancy due to 17βHSD-3 defect confirmed by molecular analysis. | 21214500 | 2011 |
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|
A | 0.800 | CausalMutation | CLINVAR | 17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence. | 19498320 | 2009 |
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|
A | 0.800 | CausalMutation | CLINVAR | A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism. | 9758445 | 1998 |
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|
A | 0.700 | CausalMutation | CLINVAR | Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency. | 23295294 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | 17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite. | 17509588 | 2008 |
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|
A | 0.700 | CausalMutation | CLINVAR | 17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations. | 10599740 | 1999 |
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|
A | 0.700 | CausalMutation | CLINVAR | Molecular genetics and pathophysiology of 17 beta-hydroxysteroid dehydrogenase 3 deficiency. | 8550739 | 1996 |
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|
A | 0.700 | GeneticVariation | CLINVAR | ||||||
|
G | 0.700 | GeneticVariation | CLINVAR |