ClinVar Miner

List of variants in gene combination FARS2, LOC126859565 reported as benign for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
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Gene type:
ClinVar version:
Total variants: 9
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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.170C>G (p.Ser57Cys) rs34382405 0.00823
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.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330

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