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

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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: 12

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HGVS	dbSNP	gnomAD frequency
NM_006567.5(FARS2):c.407C>A (p.Pro136His)	rs199863563	0.00022
NM_006567.5(FARS2):c.467C>T (p.Thr156Met)	rs146988468	0.00006
NM_006567.5(FARS2):c.261G>A (p.Trp87Ter)	rs1229314240	0.00001
NC_000006.12:g.(?_5368551)_(5369202_?)del
NM_006567.5(FARS2):c.11C>G (p.Ser4Ter)
NM_006567.5(FARS2):c.178C>T (p.Gln60Ter)
NM_006567.5(FARS2):c.251A>C (p.His84Pro)	rs1758844499
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter)	rs1428625375
NM_006567.5(FARS2):c.3G>T (p.Met1Ile)	rs2127642660
NM_006567.5(FARS2):c.425del (p.Asp142fs)	rs2127643855
NM_006567.5(FARS2):c.431A>G (p.Tyr144Cys)	rs397514610
NM_006567.5(FARS2):c.497dup (p.Leu168fs)

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