ClinVar Miner

List of variants reported as likely benign for Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure by Fulgent Genetics, Fulgent Genetics

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu)	rs115815965	0.01205
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln)	rs34530313	0.01004
NM_020745.4(AARS2):c.1752G>A (p.Glu584=)	rs78525157	0.00653

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