ClinVar Miner

List of variants studied for Combined oxidative phosphorylation defect type 8 by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_020745.4(AARS2):c.595C>T (p.Arg199Cys) rs200105202 0.00007
NM_020745.4(AARS2):c.985C>T (p.Arg329Cys) rs200187887 0.00001
NM_020745.4(AARS2):c.2884C>T (p.Gln962Ter) rs1785274253
NM_020745.4(AARS2):c.459G>A (p.Trp153Ter) rs1786349461

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