List of variants reported as pathogenic for Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)	rs144181978	0.00021
NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	rs748597500	0.00005
NM_080916.3(DGUOK):c.235C>T (p.Gln79Ter)	rs940941896	0.00004
NM_080916.3(DGUOK):c.195G>A (p.Trp65Ter)	rs140307681	0.00001

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