ClinVar Miner

List of variants reported for Combined oxidative phosphorylation deficiency 35 by SIB Swiss Institute of Bioinformatics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.1256A>C (p.His419Pro) rs566435653 0.00005
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.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579

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