ClinVar Miner

List of variants reported as pathogenic for Deficiency of transaldolase by Dr Sami Ulus Medical Genetics Department, Dr Sami Ulus Training and Research Hospital for Maternity and Children's Health and Diseases

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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_006755.2(TALDO1):c.715C>G (p.Arg239Gly)	rs201836196

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