ClinVar Miner

List of variants reported as pathogenic for Combined oxidative phosphorylation defect type 8 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)	rs138119149	0.00025
NM_020745.4(AARS2):c.647dup (p.Cys218fs)	rs587777589

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