ClinVar Miner

List of variants in gene DGUOK reported as benign for mitochondrial DNA depletion syndrome 3 (hepatocerebral type)

Included ClinVar conditions (3):

Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Portal hypertension, noncirrhotic; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4; Portal hypertension, noncirrhotic, 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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: 3

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HGVS	dbSNP	gnomAD frequency
NM_080916.3(DGUOK):c.*13A>T	rs4777	0.57593
NM_080916.3(DGUOK):c.159G>A (p.Thr53=)	rs62641680	0.01745
NM_080916.3(DGUOK):c.*119C>T	rs576927038	0.00002

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