ClinVar Miner

List of variants reported as pathogenic for Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 1
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NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter) rs1568406407

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