ClinVar Miner

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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.214_215del (p.Val72fs)
NM_080916.3(DGUOK):c.763G>T (p.Asp255Tyr)	rs104893633

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