List of variants reported as benign for combined oxidative phosphorylation deficiency by Mendelics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)	rs10501429	0.76474
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)	rs498512	0.67400
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)	rs2303909	0.58201
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)	rs2249464	0.50569
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)	rs2074506	0.27888
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)	rs4792311	0.27559
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)	rs9394021	0.22711
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)	rs5030739	0.02886

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