List of variants in gene AARS2 reported as likely pathogenic for Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure

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)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter)	rs779332260	0.00001
NM_020745.4(AARS2):c.1940del (p.Gly647fs)
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del)	rs1561943859

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