ClinVar Miner

List of variants studied for Combined oxidative phosphorylation deficiency 35

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_017646.6(TRIT1):c.33C>T (p.Pro11=) rs3845570 0.45704
NM_017646.6(TRIT1):c.1098C>T (p.Ile366=) rs16826617 0.01691
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter) rs144042123 0.00052
NM_017646.6(TRIT1):c.16G>A (p.Ala6Thr) rs138415849 0.00046
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.1029del (p.Val344fs) rs1331558743 0.00001
NM_017646.6(TRIT1):c.1225G>A (p.Glu409Lys) rs764506732 0.00001
NM_017646.6(TRIT1):c.326T>C (p.Ile109Thr) rs146838322 0.00001
NM_017646.6(TRIT1):c.856A>G (p.Lys286Glu) rs1060505019 0.00001
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp) rs370866302 0.00001
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln) rs1047420796 0.00001
NM_017646.6(TRIT1):c.1034A>G (p.Tyr345Cys) rs2124577339
NM_017646.6(TRIT1):c.1085_1086del (p.Pro362fs)
NM_017646.6(TRIT1):c.1171_1172del (p.Lys391fs)
NM_017646.6(TRIT1):c.1204C>T (p.Arg402Ter) rs367752391
NM_017646.6(TRIT1):c.1232C>T (p.Ala411Val)
NM_017646.6(TRIT1):c.1235-2A>G
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017646.6(TRIT1):c.23G>C (p.Arg8Pro)
NM_017646.6(TRIT1):c.334del (p.Arg112fs) rs536000212
NM_017646.6(TRIT1):c.415-4A>G rs1642667473
NM_017646.6(TRIT1):c.528G>T (p.Lys176Asn)
NM_017646.6(TRIT1):c.568C>T (p.Gln190Ter) rs2124597984
NM_017646.6(TRIT1):c.65C>T (p.Thr22Ile)
NM_017646.6(TRIT1):c.865C>T (p.His289Tyr)
NM_017646.6(TRIT1):c.882del (p.Glu295fs)

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