ClinVar Miner

List of variants reported as benign for Combined oxidative phosphorylation defect type 14 by Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011

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