ClinVar Miner

List of variants reported as pathogenic for Trichorhinophalangeal dysplasia type I by Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) rs864621974

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