ClinVar Miner

List of variants reported as pathogenic for Linear skin defects with multiple congenital anomalies 1; Linear skin defects with multiple congenital anomalies 3; Mitochondrial complex I deficiency, nuclear type 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 1
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HGVS dbSNP gnomAD frequency
NM_001135998.3(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225

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