List of variants reported as pathogenic for Ochoa syndrome by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	rs397515338	0.00019
NM_021828.5(HPSE2):c.1099-1G>A	rs184270108	0.00001
NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)	rs2133951833
NM_021828.5(HPSE2):c.57dup (p.Ala20fs)	rs778121647

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