List of variants in gene TSFM 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter)	rs201754030	0.00136
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)	rs121909485	0.00004
NM_005726.6(TSFM):c.944G>A (p.Cys315Tyr)	rs587777688	0.00004
NM_005726.6(TSFM):c.57+4A>G	rs587777689
NM_005726.6(TSFM):c.748G>T (p.Glu250Ter)	rs1955738689

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