List of variants in gene TRIT1 reported as uncertain significance 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_017646.6(TRIT1):c.289G>A (p.Asp97Asn)	rs766087007	0.00006
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro)	rs566435653	0.00005
NM_017646.6(TRIT1):c.1214T>C (p.Ile405Thr)	rs776537579	0.00004
NM_017646.6(TRIT1):c.847A>G (p.Ile283Val)	rs145009373	0.00004
NM_017646.6(TRIT1):c.848T>G (p.Ile283Ser)	rs199622789	0.00004
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu)	rs1060505019	0.00001
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys)	rs2124577339
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter)	rs367752391
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
NM_017646.6(TRIT1):c.415-4A>G	rs1642667473
NM_017646.6(TRIT1):c.528G>T (p.Lys176Asn)
NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)

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