List of variants in gene FARS2 reported as likely pathogenic for combined oxidative phosphorylation defect type 14

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.667C>T (p.Arg223Cys)	rs202060864	0.00028
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu)	rs751459058	0.00011
NM_006567.5(FARS2):c.1172A>T (p.Asp391Val)	rs397514612	0.00001
NM_006567.5(FARS2):c.986T>C (p.Ile329Thr)	rs397514611	0.00001
NC_000006.11:g.(?_5404755)_(5404954_?)dup
NC_000006.11:g.(?_5545393)_(5545593_?)dup
NC_000006.11:g.(?_5613382)_(5613573_?)dup
NM_006567.5(FARS2):c.1156C>G (p.Arg386Gly)	rs770597592
NM_006567.5(FARS2):c.1163T>G (p.Ile388Ser)	rs1407198979
NM_006567.5(FARS2):c.1244G>A (p.Arg415His)
NM_006567.5(FARS2):c.1256G>T (p.Arg419Leu)	rs202183509
NM_006567.5(FARS2):c.1269_1276dup (p.Ser426Ter)	rs1561847309
NM_006567.5(FARS2):c.613-2A>G
NM_006567.5(FARS2):c.821_824del (p.Ser274fs)
NM_006567.5(FARS2):c.905-1G>A	rs1298860043
NM_006567.5(FARS2):c.925G>A (p.Gly309Ser)	rs746746116
NM_006567.5(FARS2):c.925G>C (p.Gly309Arg)
NM_006567.5(FARS2):c.973G>T (p.Asp325Tyr)	rs764427452

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