ClinVar Miner

List of variants reported as benign for Leukoencephalopathy, progressive, with ovarian failure by Genome-Nilou Lab

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.2598+117G>C rs325005 0.87685
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820

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