ClinVar Miner

List of variants studied for combined oxidative phosphorylation defect type 15

Included ClinVar conditions (2):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu) rs201431517 0.00058
NM_139242.4(MTFMT):c.34C>A (p.Pro12Thr) rs933296601 0.00021
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter) rs200286768 0.00011
NM_139242.4(MTFMT):c.419+3A>G rs182623063 0.00006
NM_139242.4(MTFMT):c.382C>T (p.Arg128Ter) rs397514613 0.00001
NM_139242.4(MTFMT):c.452C>T (p.Pro151Leu) rs587777244 0.00001
NM_139242.4(MTFMT):c.1116del (p.Pro373fs) rs863224897
NM_139242.4(MTFMT):c.1123AAG[2] (p.Lys377del) rs769122836
NM_139242.4(MTFMT):c.146_153del (p.Arg49fs) rs587777417
NM_139242.4(MTFMT):c.19C>G (p.Arg7Gly) rs759489465
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs) rs777725264
NM_139242.4(MTFMT):c.374C>T (p.Ser125Leu) rs397514614
NM_139242.4(MTFMT):c.459G>A (p.Trp153Ter) rs771725115
NM_139242.4(MTFMT):c.460C>T (p.Arg154Cys) rs760793624
NM_139242.4(MTFMT):c.466C>T (p.Pro156Ser) rs2086395834
NM_139242.4(MTFMT):c.73C>T (p.Gln25Ter) rs587777419
NM_139242.4(MTFMT):c.878G>A (p.Ser293Asn) rs587777418
NM_139242.4(MTFMT):c.91C>T (p.Arg31Ter) rs1555404423

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