ClinVar Miner

List of variants reported as pathogenic for Short-rib thoracic dysplasia 17 with or without polydactyly by OMIM

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Total variants: 3
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NM_152773.5(TCTEX1D2):c.100delinsCT (p.Val34fs) rs1060505043
NM_152773.5(TCTEX1D2):c.113+2C>G rs1056574154
NM_152773.5(TCTEX1D2):c.262C>T (p.Arg88Ter) rs771373235

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