ClinVar Miner

List of variants reported as pathogenic for combined oxidative phosphorylation defect type 20 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (1):

Combined oxidative phosphorylation defect type 20

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Minimum conflict level: Report conflict between different conditions
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_020442.6(VARS2):c.1456G>T (p.Glu486Ter)	rs143821815	0.00005
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)	rs777028011	0.00002
NM_020442.6(VARS2):c.667G>T (p.Glu223Ter)

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