ClinVar Miner

List of variants studied for Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 by Fulgent Genetics, Fulgent Genetics

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_005726.6(TSFM):c.232-19T>G rs112348190 0.00291
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030 0.00136
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe) rs376562033 0.00011
NM_005726.6(TSFM):c.551del (p.Asp184fs) rs779144962 0.00001
NM_005726.6(TSFM):c.601C>T (p.Arg201Ter) rs768320625 0.00001
NM_005726.6(TSFM):c.908_909del (p.Gln303fs) rs1491203033 0.00001
NM_005726.6(TSFM):c.1_2del (p.Met1fs)
NM_005726.6(TSFM):c.232-2A>G
NM_005726.6(TSFM):c.27_28del (p.Phe10fs) rs2140412540
NM_005726.6(TSFM):c.2T>C (p.Met1Thr) rs869025542
NM_005726.6(TSFM):c.408_409del (p.Leu137fs) rs1381664827
NM_005726.6(TSFM):c.475T>A (p.Tyr159Asn) rs2140418154
NM_005726.6(TSFM):c.484-1003_484-1000dup
NM_005726.6(TSFM):c.484G>A (p.Gly162Ser) rs1180813038
NM_005726.6(TSFM):c.796del (p.Leu266fs)
NM_005726.6(TSFM):c.797delinsGG (p.Leu266fs) rs2540965587

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