ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 8; Leukoencephalopathy, progressive, with ovarian failure

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01131
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.00931
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00713
NM_020745.4(AARS2):c.2872C>T (p.Arg958Ter) rs779332260 0.00001
NM_020745.4(AARS2):c.1040+1G>A rs1561941287
NM_020745.4(AARS2):c.1940del (p.Gly647fs)
NM_020745.4(AARS2):c.387CTT[1] (p.Phe131del) rs1561943859

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