ClinVar Miner

List of variants reported as likely pathogenic for Jeune thoracic dystrophy by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 3
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HGVS dbSNP
NM_014053.4(FLVCR1):c.87G>C (p.Ala29=) rs1558104145
NM_014055.4(IFT81):c.1534C>T (p.Arg512Ter) rs200335504
NM_024755.4(SLTM):c.2600C>A (p.Pro867His) rs1401798992

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