ClinVar Miner

List of variants reported as likely pathogenic for Trichohepatoenteric syndrome 2 by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006929.5(SKIC2):c.1404-2A>G	rs1772611373
NM_006929.5(SKIC2):c.1647+1G>A	rs1772638226

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