ClinVar Miner

List of variants reported as pathogenic for Ochoa syndrome by Manchester Centre for Genomic Medicine, The University of Manchester

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.1099-1G>A	rs184270108	0.00001
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)	rs2133951833

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